#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	73	0	0	0	1	0	10	73				
XRRA1	143570	broad.mit.edu	37	11	74559225	74559225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:74559225G>A	ENST00000340360.6	-	15	1970	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C|XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|RN7SL239P_ENST00000490061.2_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGGCTGAGGCGGACAGTTGTG	0.592																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1639-1641)Cgc>Tgc		X-ray radiation resistance associated 1							76.0	80.0	79.0					11																	74559225		2152	4243	6395	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559225G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1639C>T	11.37:g.74559225G>A	ENSP00000339918:p.Arg547Cys					XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C	p.R547C	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			15	1970	-			547						Missense_Mutation	SNP	ENST00000340360.6	37	c.1639C>T	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575885	0.65878	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52526	0.66;1.41;0.67	4.29	4.29	0.51040	.	1.095810	0.06941	N	0.812752	T	0.58779	0.2146	L	0.51422	1.61	0.09310	N	0.999993	D;D;D;D;D;D;D	0.71674	0.968;0.998;0.995;0.987;0.995;0.994;0.995	B;P;P;P;P;P;P	0.56700	0.232;0.804;0.629;0.534;0.528;0.502;0.528	T	0.49184	-0.8966	10	0.42905	T	0.14	0.0617	12.5443	0.56190	0.0:0.0:1.0:0.0	.	547;149;103;460;491;157;533	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	C	547;272;533;491;460	ENSP00000339918:R547C;ENSP00000319303:R272C;ENSP00000435838:R460C	ENSP00000319303:R272C	R	-	1	0	XRRA1	74236873	0.009000	0.17119	0.162000	0.22713	0.094000	0.18550	1.762000	0.38451	2.678000	0.91216	0.591000	0.81541	CGC		0.592	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		42	128	0	0	0	1	0	42	128				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	448	0	0	0	1	0	7	448				
SLC38A8	146167	broad.mit.edu	37	16	84056458	84056458	+	Missense_Mutation	SNP	G	G	A	rs369350968		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84056458G>A	ENST00000299709.3	-	6	726	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	243					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCGTTTGCGCATGCTGCAG	0.597																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(727-729)Cgc>Tgc		solute carrier family 38, member 8		T	CYS/ARG	1,4399		0,1,2199	77.0	60.0	66.0		727	-3.1	0.0	16		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC38A8	NM_001080442.1	180	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	243/436	84056458	2,12998	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84056458G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.727C>T	16.37:g.84056458G>A	ENSP00000299709:p.Arg243Cys						p.R243C	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			6	726	-			243						Missense_Mutation	SNP	ENST00000299709.3	37	c.727C>T	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	g	13.01	2.108896	0.37242	2.27E-4	1.16E-4	ENSG00000166558	ENST00000299709	T	0.02837	4.14	5.37	-3.06	0.05379	.	0.766355	0.13025	N	0.419743	T	0.05318	0.0141	L	0.59436	1.845	0.21105	N	0.999789	D	0.71674	0.998	P	0.53185	0.72	T	0.16897	-1.0387	10	0.54805	T	0.06	-11.8938	5.2133	0.15329	0.2249:0.0:0.3705:0.4045	.	243	A6NNN8	S38A8_HUMAN	C	243	ENSP00000299709:R243C	ENSP00000299709:R243C	R	-	1	0	SLC38A8	82613959	0.704000	0.27836	0.017000	0.16124	0.002000	0.02628	0.515000	0.22801	-0.448000	0.07128	-0.233000	0.12211	CGC		0.597	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		27	107	0	0	0	1	0	27	107				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1242	0	0	0	1	0	7	1242				
HERC1	8925	broad.mit.edu	37	15	63908760	63908760	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:63908760C>A	ENST00000443617.2	-	75	13897	c.13810G>T	c.(13810-13812)Gtg>Ttg	p.V4604L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4604	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTTCCACACCAGAGGGGCC	0.502																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13810-13812)Gtg>Ttg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							56.0	57.0	56.0					15																	63908760		1888	4124	6012	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908760C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13810G>T	15.37:g.63908760C>A	ENSP00000390158:p.Val4604Leu						p.V4604L	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			75	13897	-			4604			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13810G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104026	0.94245	.	.	ENSG00000103657	ENST00000443617	T	0.56776	0.44	5.04	5.04	0.67666	HECT (4);	0.000000	0.64402	D	0.000003	T	0.65228	0.2671	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.66392	-0.5935	10	0.52906	T	0.07	.	18.7804	0.91930	0.0:1.0:0.0:0.0	.	4604	Q15751	HERC1_HUMAN	L	4604	ENSP00000390158:V4604L	ENSP00000390158:V4604L	V	-	1	0	HERC1	61695813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.491000	0.84063	0.555000	0.69702	GTG		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		54	180	1	0	5.99346e-17	1	6.48205e-17	54	180				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	369	0	0	0	1	0	15	369				
POLR3E	55718	broad.mit.edu	37	16	22330215	22330215	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:22330215C>T	ENST00000299853.5	+	13	1101	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W|POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	312					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGCTGTTCTGCGGGGCATCCA	0.478																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(934-936)Cgg>Tgg		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							110.0	108.0	109.0					16																	22330215		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22330215C>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.934C>T	16.37:g.22330215C>T	ENSP00000299853:p.Arg312Trp					POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W|POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W	p.R312W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	13	1101	+			312					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.934C>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437518	0.83885	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.72776	-0.4191	10	0.87932	D	0	-9.8146	20.1772	0.98182	0.0:1.0:0.0:0.0	.	256;276;312;312;312;312	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	W	312;312;276	ENSP00000299853:R312W;ENSP00000352140:R312W;ENSP00000399254:R276W	ENSP00000299853:R312W	R	+	1	2	POLR3E	22237716	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.494000	0.60347	2.778000	0.95560	0.655000	0.94253	CGG		0.478	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	560	0	0	0	1	0	7	560				
ST18	9705	broad.mit.edu	37	8	53045690	53045690	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:53045690C>T	ENST00000276480.7	-	21	3054	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	791					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGAGGGCATCCGGACAAGCTG	0.463																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2371-2373)Gga>Aga		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							115.0	112.0	113.0					8																	53045690		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045690C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2371G>A	8.37:g.53045690C>T	ENSP00000276480:p.Gly791Arg						p.G791R	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			21	3054	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	791					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2371G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217661	0.95104	.	.	ENSG00000147488	ENST00000276480	T	0.69685	-0.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87848	0.2656	10	0.87932	D	0	-21.3142	20.2985	0.98592	0.0:1.0:0.0:0.0	.	791	O60284	ST18_HUMAN	R	791	ENSP00000276480:G791R	ENSP00000276480:G791R	G	-	1	0	ST18	53208243	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGA		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			127	417	0	0	0	1	0	127	417				
ATG10	83734	broad.mit.edu	37	5	81474399	81474399	+	Missense_Mutation	SNP	C	C	T	rs548892230		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:81474399C>T	ENST00000282185.3	+	5	740	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	149					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACACTATTACGCAACAGGTT	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19557	0.0		0.0	False		,,,				2504	0.0					ENST00000282185.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(445-447)aCg>aTg		autophagy related 10							180.0	156.0	164.0					5																	81474399		2203	4300	6503	SO:0001583	missense	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81474399C>T	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.446C>T	5.37:g.81474399C>T	ENSP00000282185:p.Thr149Met					ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	p.T149M	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	5	740	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	149					B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	c.446C>T	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431692	0.43122	.	.	ENSG00000152348	ENST00000282185;ENST00000458350;ENST00000513634	T;T;T	0.55413	1.58;1.58;0.52	5.37	3.55	0.40652	Autophagy-related protein 3 (1);	0.159978	0.53938	D	0.000049	T	0.74481	0.3722	M	0.90145	3.09	0.42169	D	0.991636	D;D	0.89917	1.0;0.996	D;P	0.75484	0.986;0.863	T	0.77672	-0.2500	10	0.87932	D	0	-3.6582	10.2806	0.43537	0.0:0.7898:0.1361:0.0741	.	149;149	D6RDX3;Q9H0Y0	.;ATG10_HUMAN	M	149	ENSP00000282185:T149M;ENSP00000404938:T149M;ENSP00000425225:T149M	ENSP00000282185:T149M	T	+	2	0	ATG10	81510155	0.996000	0.38824	0.685000	0.30070	0.300000	0.27592	3.737000	0.55060	0.725000	0.32318	0.305000	0.20034	ACG		0.433	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		7	241	0	0	0	1	0	7	241				
EPB41	2035	broad.mit.edu	37	1	29314224	29314224	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:29314224C>A	ENST00000343067.4	+	2	402	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	EPB41_ENST00000349460.4_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	92					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGGCCCAAATCTCAGGTGTCC	0.443																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(274-276)tCt>tAt		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							126.0	122.0	124.0					1																	29314224		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314224C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.275C>A	1.37:g.29314224C>A	ENSP00000345259:p.Ser92Tyr					EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y	p.S92Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	402	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	92					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.275C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817592	0.70912	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.89270	-2.39;-2.35;-2.23;-2.49;-2.39;-2.4	5.6	4.69	0.59074	.	0.246899	0.35646	N	0.003068	D	0.91181	0.7222	L	0.32530	0.975	0.41562	D	0.988632	D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.983;0.998;0.999;0.998	D	0.92387	0.5918	10	0.72032	D	0.01	.	15.2268	0.73357	0.1417:0.8583:0.0:0.0	.	92;92;92;92;92	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	Y	109;92;92;92;92;92;92;92;92	ENSP00000345259:S92Y;ENSP00000348397:S92Y;ENSP00000381839:S92Y;ENSP00000290100:S92Y;ENSP00000362904:S92Y;ENSP00000362903:S92Y	ENSP00000345259:S92Y	S	+	2	0	EPB41	29186811	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.161000	0.50747	1.375000	0.46248	-0.133000	0.14855	TCT		0.443	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		134	382	1	0	1.73943e-47	1	1.92304e-47	134	382				
ASH1L	55870	broad.mit.edu	37	1	155449582	155449582	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:155449582C>T	ENST00000368346.3	-	3	3718	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1027					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAAATGTGGCAGCAAGACTT	0.368																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3079-3081)Gcc>Acc		ash1 (absent, small, or homeotic)-like (Drosophila)							71.0	74.0	73.0					1																	155449582		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449582C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3079G>A	1.37:g.155449582C>T	ENSP00000357330:p.Ala1027Thr					ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T	p.A1027T			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3718	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1027					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3079G>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732582	0.69189	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89864	0.4018	10	0.41790	T	0.15	.	18.7909	0.91974	0.0:1.0:0.0:0.0	.	1027;1027	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	1027	ENSP00000357330:A1027T;ENSP00000376204:A1027T	ENSP00000357330:A1027T	A	-	1	0	ASH1L	153716206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.773000	0.95371	0.655000	0.94253	GCC		0.368	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		104	298	0	0	0	1	0	104	298				
SMAD4	4089	broad.mit.edu	37	18	48575093	48575093	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:48575093C>A	ENST00000342988.3	+	3	825	c.287C>A	c.(286-288)gCc>gAc	p.A96D	SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	96	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTGATCTATGCCCGTCTCTGG	0.368																																						ENST00000342988.3																			40	Whole gene deletion(36)|Unknown(4)	p.0?(36)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(286-288)gCc>gAc		SMAD family member 4							155.0	142.0	147.0					18																	48575093		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575093C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.287C>A	18.37:g.48575093C>A	ENSP00000341551:p.Ala96Asp					SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D	p.A96D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	825	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	96			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.287C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107210	0.94292	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78246	-1.16;-1.16;-1.16	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.88383	0.3003	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	96	Q13485	SMAD4_HUMAN	D	96	ENSP00000409551:A96D;ENSP00000341551:A96D;ENSP00000381452:A96D	ENSP00000341551:A96D	A	+	2	0	SMAD4	46829091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.064000	0.71169	2.463000	0.83235	0.585000	0.79938	GCC		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		35	154	1	0	2.2871e-25	1	2.50073e-25	35	154				
KRT16P6	353194	broad.mit.edu	37	17	16725734	16725734	+	RNA	SNP	C	C	T	rs62074114	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:16725734C>T	ENST00000417510.1	-	0	159																											GAgccgcccccgatgccgccc	0.692													c|||	246	0.0491214	0.059	0.0303	5008	,	,		12065	0.0		0.0716	False		,,,				2504	0.0767					ENST00000417510.1																			0																																																			0							g.chr17:16725734C>T																													17.37:g.16725734C>T														0	159	-									RNA	SNP	ENST00000417510.1	37																																																																																						0.692	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			10	54	0	0	0	1	0	10	54				
CSMD1	64478	broad.mit.edu	37	8	2857619	2857619	+	Silent	SNP	G	G	A	rs141445155	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:2857619G>A	ENST00000520002.1	-	54	8622	c.8067C>T	c.(8065-8067)aaC>aaT	p.N2689N	CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000400186.3_Silent_p.N2631N|CSMD1_ENST00000542608.1_Silent_p.N2630N|CSMD1_ENST00000602557.1_Silent_p.N2689N|CSMD1_ENST00000537824.1_Silent_p.N2688N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2689	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAATGTGACCGTTCACAATCG	0.443													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		15714	0.0		0.0	False		,,,				2504	0.0					ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8065-8067)aaC>aaT		CUB and Sushi multiple domains 1		G		29,3761		0,29,1866	90.0	89.0	89.0		8064	-9.3	0.0	8	dbSNP_134	89	1,8239		0,1,4119	no	coding-synonymous	CSMD1	NM_033225.5		0,30,5985	AA,AG,GG		0.0121,0.7652,0.2494		2688/3565	2857619	30,12000	1895	4120	6015	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2857619G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8067C>T	8.37:g.2857619G>A						CSMD1_ENST00000542608.1_Silent_p.N2630N|CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000520002.1_Silent_p.N2689N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000400186.3_Silent_p.N2631N	p.N2689N			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8622	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2689			Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8067C>T		13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	G	0.259	-1.000873	0.02128	0.007652	1.21E-4	ENSG00000183117	ENST00000335551	.	.	.	5.77	-9.26	0.00662	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77094	-0.2715	4	.	.	.	.	21.0708	0.99945	0.8344:0.0:0.1656:0.0	.	.	.	.	W	2106	.	.	R	-	1	2	CSMD1	2845026	0.692000	0.27719	0.038000	0.18304	0.022000	0.10575	0.010000	0.13242	-2.591000	0.00456	-1.731000	0.00696	CGG		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	249	0	0	0	1	0	5	249				
ZNF569	148266	broad.mit.edu	37	19	37905084	37905084	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:37905084A>T	ENST00000316950.6	-	6	1033	c.476T>A	c.(475-477)cTt>cAt	p.L159H	ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTCTCATAAGGCATTTCAC	0.333																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(475-477)cTt>cAt		zinc finger protein 569							87.0	84.0	85.0					19																	37905084		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905084A>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.476T>A	19.37:g.37905084A>T	ENSP00000325018:p.Leu159His					ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H|ZNF569_ENST00000392150.2_5'UTR	p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1033	-			159					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.476T>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.332860	0.01298	.	.	ENSG00000196437	ENST00000316950	T	0.07688	3.17	3.37	1.09	0.20402	.	1.309050	0.05886	N	0.627427	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.02654	T	1	.	2.6069	0.04880	0.4596:0.0:0.1298:0.4106	.	159	Q5MCW4	ZN569_HUMAN	H	159	ENSP00000325018:L159H	ENSP00000325018:L159H	L	-	2	0	ZNF569	42596924	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	0.045000	0.14013	0.060000	0.16281	0.482000	0.46254	CTT		0.333	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		42	240	0	0	0	1	0	42	240				
NOTCH4	4855	broad.mit.edu	37	6	32171920	32171920	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:32171920G>C	ENST00000375023.3	-	19	3250	c.3112C>G	c.(3112-3114)Cac>Gac	p.H1038D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1038	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACCTGTGTGTCCAGGCAGA	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3112-3114)Cac>Gac		notch 4							53.0	39.0	44.0					6																	32171920		1510	2707	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171920G>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3112C>G	6.37:g.32171920G>C	ENSP00000364163:p.His1038Asp						p.H1038D	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3250	-			1038			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3112C>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359258	0.41801	.	.	ENSG00000204301	ENST00000375023	D	0.87334	-2.24	4.77	0.511	0.16989	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.469254	0.18037	N	0.153753	T	0.65386	0.2686	L	0.41492	1.28	0.80722	D	1	B	0.31599	0.33	B	0.19148	0.024	T	0.62595	-0.6821	10	0.72032	D	0.01	.	6.776	0.23621	0.5687:0.0:0.4313:0.0	.	1038	Q99466	NOTC4_HUMAN	D	1038	ENSP00000364163:H1038D	ENSP00000364163:H1038D	H	-	1	0	NOTCH4	32279898	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.363000	0.52321	0.202000	0.20498	0.561000	0.74099	CAC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			32	62	0	0	0	1	0	32	62				
INPP4A	3631	broad.mit.edu	37	2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99163121G>A	ENST00000523221.1	+	11	1127	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409016.4_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	376					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGGTCTCCGCAAAAAGCTG	0.458																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1126-1128)cGc>cAc		inositol polyphosphate-4-phosphatase, type I, 107kDa							64.0	64.0	64.0					2																	99163121		1903	4124	6027	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99163121G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1127G>A	2.37:g.99163121G>A	ENSP00000427722:p.Arg376His					INPP4A_ENST00000523221.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.R376H	p.R376H	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			13	1520	+			376					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1127G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523740	0.96431	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.43637	-0.9379	10	0.12430	T	0.62	-21.0946	18.117	0.89559	0.0:0.0:1.0:0.0	.	376;376;376;376	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	H	376	ENSP00000386704:R376H;ENSP00000386777:R376H;ENSP00000074304:R376H;ENSP00000442149:R376H;ENSP00000387294:R376H;ENSP00000427722:R376H	ENSP00000074304:R376H	R	+	2	0	INPP4A	98529553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.757000	0.94681	0.655000	0.94253	CGC		0.458	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		4	185	0	0	0	1	0	4	185				
MYO18B	84700	broad.mit.edu	37	22	26173733	26173733	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173733G>C	ENST00000407587.2	+	8	2222	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H|MYO18B_ENST00000335473.7_Missense_Mutation_p.D685H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	685	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCAGTGTGGATGGCAGGGT	0.587																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2053-2055)Gat>Cat		myosin XVIIIB							91.0	102.0	98.0					22																	26173733		2100	4223	6323	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173733G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2053G>C	22.37:g.26173733G>C	ENSP00000386096:p.Asp685His					MYO18B_ENST00000407587.2_Missense_Mutation_p.D685H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H	p.D685H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			8	2303	+			685			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2053G>C		.	.	.	.	.	.	.	.	.	.	G	13.04	2.117718	0.37339	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87491	-2.26;-2.26;-2.26	5.41	4.39	0.52855	Myosin head, motor domain (2);	0.199793	0.41938	D	0.000795	D	0.91355	0.7273	L	0.58101	1.795	0.40199	D	0.977491	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.75484	0.962;0.986;0.976;0.976	D	0.91923	0.5549	10	0.59425	D	0.04	.	13.2306	0.59941	0.0762:0.0:0.9238:0.0	.	198;685;685;685	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	685	ENSP00000441229:D685H;ENSP00000334563:D685H;ENSP00000386096:D685H	ENSP00000334563:D685H	D	+	1	0	MYO18B	24503733	1.000000	0.71417	0.993000	0.49108	0.145000	0.21501	3.357000	0.52277	1.282000	0.44496	0.655000	0.94253	GAT		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		56	337	0	0	0	1	0	56	337				
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Intron	SNP	C	C	G	rs113587125	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:71507232C>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612													.|||	509	0.101637	0.152	0.1023	5008	,	,		18127	0.0198		0.1382	False		,,,				2504	0.0798					ENST00000528685.1																			0				lung(1)	1						c.(328-330)cCg>cGg		family with sequence similarity 86, member C1							84.0	97.0	92.0					11																	71507232		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507232C>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+20C>G	11.37:g.71507232C>G						FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron	p.P110R			Q9NVL1	FA86C_HUMAN			3	329	+			0					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.329C>G	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.308522	0.01342	.	.	ENSG00000158483	ENST00000528685	T	0.20598	2.06	0.993	-1.45	0.08828	.	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	5	.	.	.	.	4.8493	0.13530	0.0:0.5879:0.0:0.4121	.	.	.	.	R	110	ENSP00000436598:P110R	.	P	+	2	0	FAM86C1	71184880	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	-0.734000	0.04893	-0.792000	0.04480	-1.109000	0.02080	CCG		0.612	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		7	616	0	0	0	1	0	7	616				
OR13F1	138805	broad.mit.edu	37	9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGTGTATGCCGGACAAACC	0.418																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(835-837)gCc>gTc		olfactory receptor, family 13, subfamily F, member 1							74.0	73.0	74.0					9																	107267379		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267379C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.836C>T	9.37:g.107267379C>T	ENSP00000334452:p.Ala279Val						p.A279V	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	925	+			279					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.836C>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822838	0.16678	.	.	ENSG00000186881	ENST00000334726	T	0.00063	8.78	4.3	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	1.231740	0.05909	N	0.631330	T	0.00210	0.0006	L	0.45137	1.4	0.09310	N	1	B	0.18013	0.025	B	0.26770	0.073	T	0.49418	-0.8942	10	0.72032	D	0.01	.	12.8128	0.57649	0.0:0.6638:0.3362:0.0	.	279	Q8NGS4	O13F1_HUMAN	V	279	ENSP00000334452:A279V	ENSP00000334452:A279V	A	+	2	0	OR13F1	106307200	0.000000	0.05858	0.501000	0.27601	0.197000	0.23852	0.950000	0.29122	0.740000	0.32651	0.655000	0.94253	GCC		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			6	357	0	0	0	1	0	6	357				
CABIN1	23523	broad.mit.edu	37	22	24447387	24447387	+	Missense_Mutation	SNP	C	C	T	rs200916276	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:24447387C>T	ENST00000398319.2	+	8	1142	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	253					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGATTGTGCGGGAGAAGGA	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19052	0.001		0.0	False		,,,				2504	0.001					ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(757-759)Cgg>Tgg		calcineurin binding protein 1							114.0	99.0	104.0					22																	24447387		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24447387C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.757C>T	22.37:g.24447387C>T	ENSP00000381364:p.Arg253Trp					CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron	p.R253W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			8	1142	+			253					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.757C>T	CCDS13823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.86	3.492173	0.64074	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T	0.62364	0.38;0.03;0.38;0.03	5.32	3.11	0.35812	.	0.176588	0.51477	D	0.000099	T	0.65396	0.2687	L	0.50333	1.59	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.987	P;P;B	0.51945	0.685;0.606;0.394	T	0.68526	-0.5385	10	0.72032	D	0.01	.	13.6165	0.62110	0.2825:0.7175:0.0:0.0	.	208;253;253	C9J068;F5H5W5;Q9Y6J0	.;.;CABIN_HUMAN	W	208;253;208;253;253	ENSP00000394209:R208W;ENSP00000263119:R253W;ENSP00000412389:R208W;ENSP00000381364:R253W	ENSP00000263119:R253W	R	+	1	2	CABIN1	22777387	1.000000	0.71417	0.517000	0.27799	0.631000	0.37964	2.925000	0.48884	0.672000	0.31204	0.551000	0.68910	CGG		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		5	289	0	0	0	1	0	5	289				
DIAPH1	1729	broad.mit.edu	37	5	140963181	140963181	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140963181C>T	ENST00000398557.4	-	5	544	c.404G>A	c.(403-405)gGc>gAc	p.G135D	DIAPH1_ENST00000389054.3_Splice_Site_p.G135D|DIAPH1_ENST00000520569.1_Splice_Site_p.G81D|DIAPH1_ENST00000398562.2_Splice_Site_p.G126D|DIAPH1_ENST00000389057.5_Splice_Site_p.G126D|DIAPH1_ENST00000518047.1_Splice_Site_p.G126D|DIAPH1_ENST00000253811.6_Splice_Site_p.G135D|DIAPH1_ENST00000398566.3_Splice_Site_p.G126D	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	135	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTCATGCCCTAGACAGA	0.423																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.e5-1		diaphanous-related formin 1							96.0	98.0	97.0					5																	140963181		1944	4135	6079	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140963181C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.403-1G>A	5.37:g.140963181C>T						DIAPH1_ENST00000520569.1_Splice_Site_p.G81_splice|DIAPH1_ENST00000518047.1_Splice_Site_p.G126_splice|DIAPH1_ENST00000398562.2_Splice_Site_p.G126_splice|DIAPH1_ENST00000398557.4_Splice_Site_p.G135_splice|DIAPH1_ENST00000398566.3_Splice_Site_p.G126_splice|DIAPH1_ENST00000389054.3_Splice_Site_p.G135_splice|DIAPH1_ENST00000389057.5_Splice_Site_p.G126_splice	p.G135_splice			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	544	-			135			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37	c.402_splice	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839182	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.72	5.72	0.89469	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.144419	0.45126	D	0.000397	D	0.90566	0.7043	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89389	0.3687	10	0.38643	T	0.18	.	18.65	0.91427	0.0:1.0:0.0:0.0	.	126;135	E9PEZ2;O60610	.;DIAP1_HUMAN	D	135;81;126;126;126;135;135;126;81	ENSP00000373706:G135D;ENSP00000429282:G81D;ENSP00000381570:G126D;ENSP00000373709:G126D;ENSP00000381572:G126D;ENSP00000381565:G135D;ENSP00000253811:G135D;ENSP00000428268:G126D;ENSP00000430587:G81D	ENSP00000253811:G135D	G	-	2	0	DIAPH1	140943365	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	6.567000	0.73983	2.705000	0.92388	0.585000	0.79938	GGC		0.423	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Missense_Mutation	6	652	0	0	0	1	0	6	652				
CGREF1	10669	broad.mit.edu	37	2	27327322	27327322	+	Intron	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:27327322C>A	ENST00000260595.5	-	2	282				CGREF1_ENST00000404694.3_Missense_Mutation_p.L93F|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTAGACACAAGCGCATTT	0.547																																						ENST00000404694.3																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(277-279)ttG>ttT		cell growth regulator with EF-hand domain 1																																				SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27327322C>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.11-77G>T	2.37:g.27327322C>A						CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron	p.L93F			Q99674	CGRE1_HUMAN			1	283	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0			EF-hand 1.		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.279G>T		.	.	.	.	.	.	.	.	.	.	C	10.68	1.418059	0.25552	.	.	ENSG00000138028	ENST00000404694	D	0.81908	-1.55	3.84	1.93	0.25924	.	.	.	.	.	T	0.70150	0.3191	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53507	-0.8429	7	.	.	.	.	10.3284	0.43807	0.0:0.4775:0.5225:0.0	.	93	B5MCC9	.	F	93	ENSP00000385574:L93F	.	L	-	3	2	CGREF1	27180826	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.264000	0.18497	0.538000	0.28769	-0.310000	0.09108	TTG		0.547	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		3	28	1	0	1	1	1	3	28				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		33	426	0	0	0	1	0	33	426				
LRRC36	55282	broad.mit.edu	37	16	67397524	67397524	+	Silent	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67397524C>G	ENST00000329956.6	+	6	628	c.609C>G	c.(607-609)ccC>ccG	p.P203P	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000563189.1_Silent_p.P82P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	203										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCCTTCCCCAACCGGGAAA	0.428																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(607-609)ccC>ccG		leucine rich repeat containing 36							105.0	97.0	99.0					16																	67397524		2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67397524C>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.609C>G	16.37:g.67397524C>G						LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR	p.P203P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	6	628	+		Ovarian(137;0.192)	203					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	c.609C>G	CCDS32467.1																																																																																				0.428	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		16	420	0	0	0	1	0	16	420				
MYH1	4619	broad.mit.edu	37	17	10398336	10398336	+	Missense_Mutation	SNP	G	G	A	rs202246274		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:10398336G>A	ENST00000226207.5	-	37	5472	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCCTTCACCGTCTGTTCCAG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19391	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5377-5379)aCg>aTg		myosin, heavy chain 1, skeletal muscle, adult							153.0	146.0	149.0					17																	10398336		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398336G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5378C>T	17.37:g.10398336G>A	ENSP00000226207:p.Thr1793Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.T1793M	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			37	5472	-			1793					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5378C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126300	0.77549	.	.	ENSG00000109061	ENST00000226207	T	0.78126	-1.15	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.44483	U	0.000455	D	0.86280	0.5895	H	0.95745	3.715	0.58432	D	0.999997	B	0.29037	0.231	B	0.31869	0.137	D	0.87462	0.2408	10	0.72032	D	0.01	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	1793	P12882	MYH1_HUMAN	M	1793	ENSP00000226207:T1793M	ENSP00000226207:T1793M	T	-	2	0	MYH1	10339061	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	9.809000	0.99208	2.616000	0.88540	0.561000	0.74099	ACG		0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		164	327	0	0	0	1	0	164	327				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		12	279	0	0	0	1	0	12	279				
HERC2	8924	broad.mit.edu	37	15	28375699	28375699	+	Silent	SNP	G	G	A	rs61756151	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12610-12612)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	185.0	196.0	192.0		12612	-1.0	1.0	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375699G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12612C>T	15.37:g.28375699G>A							p.C4204C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	82	12720	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4204						Silent	SNP	ENST00000261609.7	37	c.12612C>T	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	940	0	0	0	1	0	6	940				
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:7578502A>T	ENST00000269305.4	-	5	617	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V143E|TP53_ENST00000420246.2_Missense_Mutation_p.V143E|TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCACAGCTGCACAGGGCAGGT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(427-429)gTg>gAg	Other conserved DNA damage response genes	tumor protein p53							57.0	56.0	56.0					17																	7578502		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578502A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.428T>A	17.37:g.7578502A>T	ENSP00000269305:p.Val143Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E	p.V143E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	560	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.428T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333767	0.41297	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.48975	D	0.99973	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.993;0.996;0.999;0.999;0.996	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143E;ENSP00000352610:V143E;ENSP00000269305:V143E;ENSP00000398846:V143E;ENSP00000391127:V143E;ENSP00000391478:V143E;ENSP00000425104:V11E;ENSP00000423862:V50E;ENSP00000424104:V143E	ENSP00000269305:V143E	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		70	147	0	0	0	1	0	70	147				
ZNF551	90233	broad.mit.edu	37	19	58199361	58199361	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:58199361G>T	ENST00000282296.5	+	3	1903	c.1718G>T	c.(1717-1719)aGc>aTc	p.S573I	ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAAGTGCTAGCCTCATTCAA	0.458																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1717-1719)aGc>aTc		zinc finger protein 551							83.0	83.0	83.0					19																	58199361		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199361G>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1718G>T	19.37:g.58199361G>T	ENSP00000282296:p.Ser573Ile					ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.S573I	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1903	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	573					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1718G>T	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889440|1.889440	0.33348|0.33348	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.79|2.79	-5.0|-5.0	0.03001|0.03001	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.32467	.|0.372	.|B	.|0.35727	.|0.209	T|T	0.27365|0.27365	-1.0076|-1.0076	6|8	0.33141|0.48119	T|T	0.24|0.1	.|.	1.0859|1.0859	0.01652|0.01652	0.2596:0.2992:0.2915:0.1497|0.2596:0.2992:0.2915:0.1497	.|.	.|573	.|Q7Z340	.|ZN551_HUMAN	D|I	15|573;557;356	.|.	ENSP00000437781:A15D|ENSP00000282296:S557I	A|S	-|+	2|2	0|0	AC004017.1|ZNF551	62891173|62891173	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-3.227000|-3.227000	0.00549|0.00549	-0.968000|-0.968000	0.03578|0.03578	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.458	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		5	424	1	0	0.184627	1	0.187453	5	424				
TUBGCP3	10426	broad.mit.edu	37	13	113140311	113140311	+	Missense_Mutation	SNP	G	G	A	rs536973080		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:113140311G>A	ENST00000261965.3	-	22	2906	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	907					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGAGCTTCACGTGTGGGAGCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16352	0.0		0.0	False		,,,				2504	0.001					ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2719-2721)aCg>aTg		tubulin, gamma complex associated protein 3							13.0	12.0	12.0					13																	113140311		2196	4280	6476	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113140311G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2720C>T	13.37:g.113140311G>A	ENSP00000261965:p.Thr907Met						p.T907M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			22	2906	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		907					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2720C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152609	0.38021	.	.	ENSG00000126216	ENST00000261965	T	0.24350	1.86	4.64	1.7	0.24286	.	0.391386	0.28618	N	0.014706	T	0.11324	0.0276	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.09465	-1.0673	10	0.41790	T	0.15	.	6.8525	0.24022	0.5149:0.0:0.4851:0.0	.	897;907	B4DYP7;Q96CW5	.;GCP3_HUMAN	M	907	ENSP00000261965:T907M	ENSP00000261965:T907M	T	-	2	0	TUBGCP3	112188312	1.000000	0.71417	0.566000	0.28421	0.740000	0.42216	3.101000	0.50283	0.420000	0.25954	0.655000	0.94253	ACG		0.597	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		33	99	0	0	0	1	0	33	99				
CTSS	1520	broad.mit.edu	37	1	150722622	150722622	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:150722622T>G	ENST00000368985.3	-	6	913	c.653A>C	c.(652-654)aAa>aCa	p.K218T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	218					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACGATATTTTGAGTCATA	0.393																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(652-654)aAa>aCa		cathepsin S							104.0	89.0	94.0					1																	150722622		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150722622T>G	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.653A>C	1.37:g.150722622T>G	ENSP00000357981:p.Lys218Thr					CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	p.K218T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		6	913	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		218					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.653A>C	CCDS968.1	.	.	.	.	.	.	.	.	.	.	T	5.005	0.186606	0.09547	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97598	-4.45;1.98	5.45	3.18	0.36537	Peptidase C1A, papain C-terminal (2);	0.409268	0.29668	N	0.011514	T	0.78534	0.4298	N	0.02213	-0.635	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.005;0.01	T	0.73107	-0.4087	10	0.20046	T	0.44	.	6.2497	0.20839	0.0:0.0981:0.3428:0.5592	.	168;218	B4DWC9;P25774	.;CATS_HUMAN	T	168;218	ENSP00000408414:K168T;ENSP00000357981:K218T	ENSP00000357981:K218T	K	-	2	0	CTSS	148989246	0.000000	0.05858	0.088000	0.20740	0.438000	0.31896	0.260000	0.18424	0.910000	0.36722	0.383000	0.25322	AAA		0.393	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		82	257	0	0	0	1	0	82	257				
PPIP5K1	9677	broad.mit.edu	37	15	43851071	43851071	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:43851071G>C	ENST00000396923.3	-	28	3428	c.3307C>G	c.(3307-3309)Ctt>Gtt	p.L1103V	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1103					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						CGTAGGGAAAGGGCATTATGC	0.478																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(3307-3309)Ctt>Gtt		diphosphoinositol pentakisphosphate kinase 1							156.0	135.0	142.0					15																	43851071		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43851071G>C	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3307C>G	15.37:g.43851071G>C	ENSP00000380129:p.Leu1103Val					PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V	p.L1103V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			29	3489	-			1103					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3307C>G	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284077	0.80803	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.58060	0.56;0.36;2.25;0.36;0.56;0.56;0.52;2.25	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.76170	2.325	0.37898	D	0.930941	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.76410	-0.2969	10	0.59425	D	0.04	-13.5751	19.609	0.95594	0.0:0.0:1.0:0.0	.	1036;1103;1100;1078	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	V	1099;1078;1036;1078;1103;1103;1078;1103;1079;1036;999	ENSP00000371309:L1099V;ENSP00000353446:L1078V;ENSP00000353253:L1036V;ENSP00000334779:L1078V;ENSP00000380129:L1103V;ENSP00000400887:L1103V;ENSP00000371303:L1079V;ENSP00000308773:L1036V	ENSP00000304750:L1103V	L	-	1	0	PPIP5K1	41638363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.882000	0.98803	0.655000	0.94253	CTT		0.478	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		64	324	0	0	0	1	0	64	324				
ZNF280D	54816	broad.mit.edu	37	15	56958635	56958635	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:56958635T>C	ENST00000267807.7	-	16	2168	c.1952A>G	c.(1951-1953)tAc>tGc	p.Y651C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAGTGTTGTATCTGCAAAA	0.358																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1912-1914)tAc>tGc		zinc finger protein 280D							109.0	105.0	106.0					15																	56958635		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56958635T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1952A>G	15.37:g.56958635T>C	ENSP00000267807:p.Tyr651Cys					ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y651C	p.Y638C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	15	2596	-			651					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1913A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.205782	0.58234	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.16324	2.35;3.21	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);	0.660622	0.11753	U	0.532867	T	0.41511	0.1162	M	0.76574	2.34	0.39244	D	0.963911	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.27971	-1.0058	10	0.87932	D	0	-20.1193	9.5114	0.39078	0.1573:0.0:0.0:0.8427	.	714;651	B4DHL1;Q6N043	.;Z280D_HUMAN	C	651;638;355	ENSP00000267807:Y651C;ENSP00000379545:Y355C	ENSP00000267807:Y651C	Y	-	2	0	ZNF280D	54745927	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.396000	0.66297	1.983000	0.57843	0.383000	0.25322	TAC		0.358	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		64	322	0	0	0	1	0	64	322				
ZNF804B	219578	broad.mit.edu	37	7	88965553	88965553	+	Missense_Mutation	SNP	C	C	T	rs141579525	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:88965553C>T	ENST00000333190.4	+	4	3866	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1086							metal ion binding (GO:0046872)	p.T1086N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTGGTGTGACTGATTCAACA	0.353										HNSCC(36;0.09)			C|||	2	0.000399361	0.0	0.0014	5008	,	,		19325	0.0		0.001	False		,,,				2504	0.0					ENST00000333190.4																			1	Substitution - Missense(1)	p.T1086N(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3256-3258)aCt>aTt		zinc finger protein 804B		C	ILE/THR	7,4397	12.9+/-30.5	0,7,2195	55.0	54.0	54.0		3257	1.9	0.0	7	dbSNP_134	54	37,8561	24.6+/-71.5	0,37,4262	yes	missense	ZNF804B	NM_181646.2	89	0,44,6457	TT,TC,CC		0.4303,0.1589,0.3384	benign	1086/1350	88965553	44,12958	2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965553C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3257C>T	7.37:g.88965553C>T	ENSP00000329638:p.Thr1086Ile	HNSCC(36;0.09)					p.T1086I	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3866	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1086					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3257C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	5.703	0.314232	0.10789	0.001589	0.004303	ENSG00000182348	ENST00000333190	T	0.05025	3.51	4.77	1.94	0.25998	.	0.887861	0.09842	N	0.748721	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	T	0.43605	-0.9381	10	0.37606	T	0.19	0.0263	3.5384	0.07802	0.1322:0.5672:0.1461:0.1545	.	1086	A4D1E1	Z804B_HUMAN	I	1086	ENSP00000329638:T1086I	ENSP00000329638:T1086I	T	+	2	0	ZNF804B	88803489	0.102000	0.21896	0.038000	0.18304	0.675000	0.39556	0.870000	0.28010	0.702000	0.31825	0.655000	0.94253	ACT		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		76	208	0	0	0	1	0	76	208				
KCTD19	146212	broad.mit.edu	37	16	67333434	67333434	+	Missense_Mutation	SNP	T	T	C	rs373584218		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67333434T>C	ENST00000304372.5	-	6	873	c.818A>G	c.(817-819)aAg>aGg	p.K273R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	273					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGGGCCCCCTTCCCGGGGCT	0.642																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(817-819)aAg>aGg		potassium channel tetramerization domain containing 19							63.0	70.0	68.0					16																	67333434		1887	4112	5999	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333434T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.818A>G	16.37:g.67333434T>C	ENSP00000305702:p.Lys273Arg					KCTD19_ENST00000562860.1_5'UTR	p.K273R	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	873	-		Ovarian(137;0.192)	273					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.818A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579355	0.46006	.	.	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.77	5.77	0.91146	.	0.173060	0.41396	D	0.000893	T	0.40670	0.1126	N	0.14661	0.345	0.30590	N	0.761602	B	0.21753	0.06	B	0.19946	0.027	T	0.41466	-0.9507	10	0.34782	T	0.22	-27.9066	12.7641	0.57383	0.0:0.0:0.0:1.0	.	273	Q17RG1	KCD19_HUMAN	R	273	ENSP00000305702:K273R	ENSP00000305702:K273R	K	-	2	0	KCTD19	65890935	0.994000	0.37717	0.982000	0.44146	0.313000	0.28021	3.595000	0.54016	2.326000	0.78906	0.533000	0.62120	AAG		0.642	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		5	587	0	0	0	1	0	5	587				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		6	557	1	0	0.0293803	1	0.029983	6	557				
NELFB	25920	broad.mit.edu	37	9	140160826	140160826	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:140160826G>C	ENST00000343053.4	+	8	1380	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	348					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGGCGCTGGGCCAGGGAGCC	0.662																																						ENST00000343053.4																			0											c.(1042-1044)gGc>gCc		negative elongation factor complex member B							34.0	32.0	33.0					9																	140160826		2199	4289	6488	SO:0001583	missense	25920							g.chr9:140160826G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1043G>C	9.37:g.140160826G>C	ENSP00000339495:p.Gly348Ala						p.G348A	NM_015456.3	NP_056271.2					8	1380	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1043G>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879657	0.91740	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79492	-0.1781	9	0.72032	D	0.01	-52.4541	17.637	0.88125	0.0:0.0:1.0:0.0	.	348	Q8WX92	NELFB_HUMAN	A	348	.	ENSP00000339495:G348A	G	+	2	0	COBRA1	139280647	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.442000	0.73443	2.506000	0.84524	0.491000	0.48974	GGC		0.662	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		46	163	0	0	0	1	0	46	163				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		45	237	0	0	0	1	0	45	237				
PDE1C	5137	broad.mit.edu	37	7	31864537	31864537	+	Silent	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:31864537C>A	ENST00000396191.1	-	13	1805	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PDE1C_ENST00000396184.3_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V|PDE1C_ENST00000321453.7_Silent_p.V450V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	450	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTAATGGACTCACAATCTTCT	0.507																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1348-1350)gtG>gtT		phosphodiesterase 1C, calmodulin-dependent 70kDa							186.0	156.0	166.0					7																	31864537		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31864537C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1350G>T	7.37:g.31864537C>A						PDE1C_ENST00000321453.7_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396191.1_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V	p.V450V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	1554	-			450			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1350G>T	CCDS55099.1																																																																																				0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			5	532	1	0	3.59834e-05	1	3.80888e-05	5	532				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						ENST00000338347.4																			4	Substitution - coding silent(3)|Substitution - Missense(1)	p.L657L(3)|p.Y584D(1)	prostate(4)	NS(2)|prostate(1)	3						c.(1750-1752)Tac>Gac		neuroblastoma breakpoint family, member 9							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818							g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D	p.Y584D							14	1750	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1750T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		9	780	0	0	0	1	0	9	780				
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	rs199890203	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11269-11271)Gta>Ata		HYDIN, axonemal central pair apparatus protein		C	ILE/VAL	0,3784		0,0,1892	42.0	43.0	42.0		11266	-7.5	0.0	16		42	6,8214		0,6,4104	yes	missense	HYDIN	NM_032821.2	29	0,6,5996	TT,TC,CC		0.073,0.0,0.05	probably-damaging	3756/5121	70902514	6,11998	1892	4110	6002	SO:0001583	missense	54768							g.chr16:70902514C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11269G>A	16.37:g.70902514C>T	ENSP00000377197:p.Val3757Ile						p.V3757I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			66	11419	-		Ovarian(137;0.0654)	3757					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11269G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992987	0.54041	0.0	7.3E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.17	-7.53	0.01336	.	1.450790	0.06162	N	0.676024	T	0.00695	0.0023	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	B	0.37047	0.24	T	0.46414	-0.9193	10	0.33940	T	0.23	.	1.2147	0.01912	0.2597:0.2713:0.0911:0.3779	.	3756	F8WD23	.	I	3757;3756	ENSP00000377197:V3757I	ENSP00000313052:V3756I	V	-	1	0	HYDIN	69460015	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.004000	0.01461	-0.941000	0.03700	-0.294000	0.09567	GTA		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			40	144	0	0	0	1	0	40	144				
STAT1	6772	broad.mit.edu	37	2	191859901	191859901	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859901A>T	ENST00000361099.3	-	10	1217	c.830T>A	c.(829-831)cTt>cAt	p.L277H	STAT1_ENST00000409465.1_Missense_Mutation_p.L277H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000392322.3_Missense_Mutation_p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAACTTTTTAAGCTGCTGCCG	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(829-831)cTt>cAt		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						153.0	131.0	138.0					2																	191859901		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859901A>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.830T>A	2.37:g.191859901A>T	ENSP00000354394:p.Leu277His					STAT1_ENST00000392322.3_Missense_Mutation_p.L277H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000409465.1_Missense_Mutation_p.L277H	p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1217	-			277					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.830T>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588409	0.86851	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.66	5.66	0.87406	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86536	0.1825	10	0.87932	D	0	-19.3136	15.9051	0.79423	1.0:0.0:0.0:0.0	.	277;277	P42224-2;P42224	.;STAT1_HUMAN	H	277;277;277;279	ENSP00000354394:L277H;ENSP00000386244:L277H;ENSP00000376136:L277H;ENSP00000376137:L279H	ENSP00000354394:L277H	L	-	2	0	STAT1	191568146	1.000000	0.71417	0.990000	0.47175	0.806000	0.45545	9.189000	0.94928	2.151000	0.67156	0.455000	0.32223	CTT		0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		5	346	0	0	0	1	0	5	346				
BCAS1	8537	broad.mit.edu	37	20	52570062	52570062	+	Missense_Mutation	SNP	G	G	A	rs201134866	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:52570062G>A	ENST00000395961.3	-	11	1755	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	530						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGTGTCCACCGTGGCCTGCTC	0.562													G|||	6	0.00119808	0.0	0.0	5008	,	,		18474	0.006		0.0	False		,,,				2504	0.0					ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1588-1590)aCg>aTg		breast carcinoma amplified sequence 1							240.0	187.0	205.0					20																	52570062		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570062G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1589C>T	20.37:g.52570062G>A	ENSP00000379290:p.Thr530Met					BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M	p.T530M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1755	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		530					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1589C>T	CCDS13444.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	13.51|13.51	2.259581|2.259581	0.39995|0.39995	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.32515	.|2.15;2.41;2.45;2.41;1.45	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	.|1.843200	.|0.02444	.|N	.|0.084842	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;D;D	.|0.64830	.|0.067;0.209;0.067;0.239;0.994;0.994	.|B;B;B;B;P;P	.|0.51833	.|0.016;0.055;0.016;0.057;0.681;0.681	T|T	0.50448|0.50448	-0.8827|-0.8827	5|10	.|0.44086	.|T	.|0.13	2.3235|2.3235	4.623|4.623	0.12465|0.12465	0.5131:0.2359:0.1717:0.0793|0.5131:0.2359:0.1717:0.0793	.|.	.|530;196;539;452;530;530	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|M	193|401;539;330;530;452;196	.|ENSP00000396361:T401M;ENSP00000360495:T539M;ENSP00000379290:T530M;ENSP00000360490:T452M;ENSP00000409956:T196M	.|ENSP00000360490:T452M	R|T	-|-	1|2	2|0	BCAS1|BCAS1	52003469|52003469	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.697000|-1.697000	0.01910|0.01910	-2.036000|-2.036000	0.00922|0.00922	-0.228000|-0.228000	0.12330|0.12330	CGG|ACG		0.562	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		5	377	0	0	0	1	0	5	377				
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						ENST00000056217.5																			5	Substitution - coding silent(5)	p.N336N(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Rho guanine nucleotide exchange factor (GEF) 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C							p.N336N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1182	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	253	0	0	0	1	0	4	253				
FMN2	56776	broad.mit.edu	37	1	240371196	240371196	+	Silent	SNP	G	G	A	rs201173147		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.741																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3082-3084)gcG>gcA		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371196G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3084G>A	1.37:g.240371196G>A							p.A1028A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3314	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1028			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3084G>A	CCDS31069.2																																																																																				0.741	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	109	0	0	0	1	0	4	109				
HMGB2	3148	broad.mit.edu	37	4	174253329	174253329	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:174253329G>A	ENST00000296503.5	-	5	1405	c.532C>T	c.(532-534)Cca>Tca	p.P178S	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S			P26583	HMGB2_HUMAN	high mobility group box 2	178					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GAGCCTGTTGGCCTGCCAGGG	0.433																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(532-534)Cca>Tca		high mobility group box 2							175.0	158.0	164.0					4																	174253329		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253329G>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.532C>T	4.37:g.174253329G>A	ENSP00000296503:p.Pro178Ser					HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S	p.P178S			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1405	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	178					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.532C>T	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946710	0.34377	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.94758	-3.51;-3.51;-3.51	5.9	4.2	0.49525	.	0.105398	0.42682	N	0.000667	D	0.88340	0.6410	L	0.28192	0.835	0.54753	D	0.999982	B	0.12013	0.005	B	0.06405	0.002	T	0.81147	-0.1065	10	0.22109	T	0.4	.	9.8684	0.41160	0.2071:0.0:0.7929:0.0	.	178	P26583	HMGB2_HUMAN	S	178	ENSP00000296503:P178S;ENSP00000393448:P178S;ENSP00000404912:P178S	ENSP00000296503:P178S	P	-	1	0	HMGB2	174489904	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.668000	0.68074	0.841000	0.35020	-0.145000	0.13849	CCA		0.433	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		79	336	0	0	0	1	0	79	336				
MYO18B	84700	broad.mit.edu	37	22	26173732	26173732	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173732G>A	ENST00000407587.2	+	8	2221	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V	MYO18B_ENST00000536101.1_Silent_p.V684V|MYO18B_ENST00000335473.7_Silent_p.V684V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	684	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGCAGTGTGGATGGCAGGG	0.592																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2050-2052)gtG>gtA		myosin XVIIIB							91.0	102.0	98.0					22																	26173732		2103	4223	6326	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173732G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2052G>A	22.37:g.26173732G>A						MYO18B_ENST00000407587.2_Silent_p.V684V|MYO18B_ENST00000536101.1_Silent_p.V684V	p.V684V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			8	2302	+			684			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2052G>A																																																																																					0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		56	343	0	0	0	1	0	56	343				
REXO1L1P	254958	broad.mit.edu	37	8	86573803	86573803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:86573803C>T	ENST00000379010.2	-	1	1923	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						GCGCTTGCGTCCTCGCTGGAG	0.672																																						ENST00000379010.2																			0				endometrium(1)|lung(4)	5						c.(1924-1926)Gac>Aac		REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1							5.0	5.0	5.0					8																	86573803		1837	3765	5602	SO:0001583	missense	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573803C>T																												ENST00000379010.2:c.1924G>A	8.37:g.86573803C>T	ENSP00000368295:p.Asp642Asn						p.D642N	NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN			1	1923	-			642						Missense_Mutation	SNP	ENST00000379010.2	37	c.1924G>A		.	.	.	.	.	.	.	.	.	.	C	13.85	2.361495	0.41801	.	.	ENSG00000205176	ENST00000379010	D	0.92099	-2.97	0.793	0.793	0.18632	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	U	0.000000	D	0.95114	0.8417	M	0.90198	3.095	0.09310	N	1	D	0.65815	0.995	D	0.73380	0.98	D	0.87512	0.2440	10	0.54805	T	0.06	.	4.7632	0.13118	0.0:1.0:0.0:0.0	.	642	Q8IX06	GOR_HUMAN	N	642	ENSP00000368295:D642N	ENSP00000368295:D642N	D	-	1	0	REXO1L1	86761055	0.182000	0.23173	0.021000	0.16686	0.021000	0.10359	1.297000	0.33400	0.191000	0.20236	0.194000	0.17425	GAC		0.672	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			24	905	0	0	0	1	0	24	905				
HIST2H3D	653604	broad.mit.edu	37	1	149784858	149784858	+	Silent	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:149784858A>G	ENST00000331491.1	-	1	378	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	127					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGCGGGCCAACTGGATGTCC	0.587																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(379-381)Ttg>Ctg		histone cluster 2, H3d							48.0	50.0	50.0					1																	149784858		1568	3581	5149	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784858A>G	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.379T>C	1.37:g.149784858A>G							p.L127L	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	378	-			127					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.379T>C	CCDS41388.1																																																																																				0.587	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		11	220	0	0	0	1	0	11	220				
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:17415843G>A	ENST00000389817.3	-	37	4583	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	ABCC8_ENST00000302539.4_Silent_p.D1506D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGTGGCCTCGTCCATGATGA	0.577																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4516-4518)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						74.0	72.0	73.0					11																	17415843		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415843G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4515C>T	11.37:g.17415843G>A						ABCC8_ENST00000389817.3_Silent_p.D1505D	p.D1506D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	37	4643	-			1505		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).	ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.4518C>T	CCDS31437.1																																																																																				0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		99	441	0	0	0	1	0	99	441				
LRRC37A11P	342666	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	T	G	rs202046449		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37188577T>G	ENST00000425901.2	+	0	2419					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACATATGTGATCTCTGTACCT	0.517																																						ENST00000425901.2																			0																																																			0							g.chr17:37188577T>G			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188577T>G								NR_033753.2						0	2419	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.517	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		9	746	0	0	0	1	0	9	746				
STYK1	55359	broad.mit.edu	37	12	10772786	10772786	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:10772786C>T	ENST00000075503.3	-	11	1746	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	409						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTCTGATGCCGGCCACAGC	0.478										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1225-1227)gGc>gAc		serine/threonine/tyrosine kinase 1							162.0	156.0	158.0					12																	10772786		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772786C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1226G>A	12.37:g.10772786C>T	ENSP00000075503:p.Gly409Asp	HNSCC(73;0.22)					p.G409D	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			11	1746	-			409					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1226G>A	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342481	0.81911	.	.	ENSG00000060140	ENST00000075503	T	0.78364	-1.17	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	D	0.87075	0.6087	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.88527	0.3100	10	0.72032	D	0.01	-13.5645	15.6766	0.77332	0.0:1.0:0.0:0.0	.	409	Q6J9G0	STYK1_HUMAN	D	409	ENSP00000075503:G409D	ENSP00000075503:G409D	G	-	2	0	STYK1	10664053	0.997000	0.39634	0.992000	0.48379	0.969000	0.65631	5.025000	0.64097	2.279000	0.76181	0.563000	0.77884	GGC		0.478	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		5	614	0	0	0	1	0	5	614				
KRTAP5-4	387267	broad.mit.edu	37	11	1643246	1643246	+	Silent	SNP	A	A	G	rs142004120	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:1643246A>G	ENST00000399682.1	-	1	122	c.78T>C	c.(76-78)tcT>tcC	p.S26S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccagagccacagc	0.682													-|||	374	0.0746805	0.0908	0.0562	5008	,	,		7183	0.0923		0.0596	False		,,,				2504	0.0634					ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(76-78)tcT>tcC		keratin associated protein 5-4							4.0	8.0	7.0					11																	1643246		639	1494	2133	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643246A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.78T>C	11.37:g.1643246A>G							p.S26S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	122	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	26						Silent	SNP	ENST00000399682.1	37	c.78T>C																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		10	341	0	0	0	1	0	10	341				
ZNF423	23090	broad.mit.edu	37	16	49672109	49672109	+	Silent	SNP	G	G	A	rs377569533		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:49672109G>A	ENST00000561648.1	-	4	1007	c.954C>T	c.(952-954)caC>caT	p.H318H	ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000567169.1_Silent_p.H201H|ZNF423_ENST00000535559.1_Silent_p.H201H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	318					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTGGTTGGCGTGGGCTTGGT	0.617																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(952-954)caC>caT		zinc finger protein 423		G		0,4396		0,0,2198	120.0	87.0	98.0		954	1.9	1.0	16		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		318/1285	49672109	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672109G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.954C>T	16.37:g.49672109G>A						ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000567169.1_Silent_p.H201H	p.H318H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1007	-		all_cancers(37;0.0155)	318					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.954C>T	CCDS32445.1																																																																																				0.617	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		77	203	0	0	0	1	0	77	203				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	700	0	0	0	1	0	8	700				
DCC	1630	broad.mit.edu	37	18	50450207	50450207	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:50450207C>T	ENST00000442544.2	+	4	1444	c.828C>T	c.(826-828)ggC>ggT	p.G276G	DCC_ENST00000412726.1_Silent_p.G124G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	276	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTACGAGGCGAGGAAGTCA	0.373																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(826-828)ggC>ggT		deleted in colorectal carcinoma							123.0	101.0	108.0					18																	50450207		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450207C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.828C>T	18.37:g.50450207C>T						DCC_ENST00000412726.1_Silent_p.G124G	p.G276G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1444	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	276			Ig-like C2-type 3.			Silent	SNP	ENST00000442544.2	37	c.828C>T	CCDS11952.1																																																																																				0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		85	232	0	0	0	1	0	85	232				
OR2G2	81470	broad.mit.edu	37	1	247751947	247751947	+	Missense_Mutation	SNP	G	G	A	rs372540193		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:247751947G>A	ENST00000320065.1	+	1	286	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAACTATCGCCTATGGTGG	0.527																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(286-288)Gcc>Acc		olfactory receptor, family 2, subfamily G, member 2		A	THR/ALA	0,4406		0,0,2203	194.0	157.0	169.0		286	-1.9	0.8	1		169	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2G2	NM_001001915.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	96/318	247751947	1,13005	2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751947G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.286G>A	1.37:g.247751947G>A	ENSP00000326349:p.Ala96Thr					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.A96T	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	286	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		96					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.286G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	3.757	-0.050345	0.07407	0.0	1.16E-4	ENSG00000177489	ENST00000320065	T	0.01084	5.36	4.29	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.226724	0.21845	N	0.068280	T	0.00384	0.0012	N	0.00303	-1.675	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45760	-0.9239	10	0.33141	T	0.24	.	6.2696	0.20947	0.29:0.0:0.086:0.624	.	96	Q8NGZ5	OR2G2_HUMAN	T	96	ENSP00000326349:A96T	ENSP00000326349:A96T	A	+	1	0	OR2G2	245818570	0.000000	0.05858	0.761000	0.31378	0.087000	0.18053	0.484000	0.22308	-0.476000	0.06842	-0.333000	0.08304	GCC		0.527	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			81	423	0	0	0	1	0	81	423				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	94	0	0	0	1	0	5	94				
CELA2B	51032	broad.mit.edu	37	1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:15802967T>A	ENST00000375910.3	+	2	81	c.56T>A	c.(55-57)gTc>gAc	p.V19D	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	19						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGTTGTGGGGTCTCCACTTAC	0.527																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(55-57)gTc>gAc		chymotrypsin-like elastase family, member 2B							120.0	115.0	117.0					1																	15802967		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15802967T>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.56T>A	1.37:g.15802967T>A	ENSP00000365075:p.Val19Asp					CELA2B_ENST00000494280.1_3'UTR	p.V19D	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			2	81	+			19					Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.56T>A	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	T	1.790	-0.479829	0.04383	.	.	ENSG00000215704	ENST00000375910;ENST00000422901	D;D	0.93426	-3.22;-2.95	4.39	0.376	0.16193	Peptidase cysteine/serine, trypsin-like (1);	0.501238	0.15453	U	0.261580	D	0.85932	0.5812	L	0.43598	1.365	0.25250	N	0.989686	B	0.06786	0.001	B	0.10450	0.005	T	0.68534	-0.5383	10	0.13108	T	0.6	.	3.3034	0.06990	0.3747:0.1066:0.0:0.5187	.	19	P08218	CEL2B_HUMAN	D	19;3	ENSP00000365075:V19D;ENSP00000399811:V3D	ENSP00000365075:V19D	V	+	2	0	CELA2B	15675554	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	-0.078000	0.11375	-0.221000	0.09973	0.172000	0.16884	GTC		0.527	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		10	503	0	0	0	1	0	10	503				
GOLGA1	2800	broad.mit.edu	37	9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	509	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.E509K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCCTTCTCGTCTATTATG	0.512																																						ENST00000373555.4																			1	Substitution - Missense(1)	p.E509K(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1525-1527)Gag>Aag		golgin A1							236.0	223.0	227.0					9																	127651788		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127651788C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1525G>A	9.37:g.127651788C>T	ENSP00000362656:p.Glu509Lys						p.E509K	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			17	1858	-			509			Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1525G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691632	0.48097	.	.	ENSG00000136935	ENST00000373555	T	0.35789	1.29	5.22	3.38	0.38709	.	0.000000	0.47093	D	0.000241	T	0.28234	0.0697	L	0.47716	1.5	0.29653	N	0.843775	D	0.58620	0.983	B	0.39299	0.296	T	0.16012	-1.0417	10	0.31617	T	0.26	-1.372	11.536	0.50636	0.0:0.8667:0.0:0.1333	.	509	Q92805	GOGA1_HUMAN	K	509	ENSP00000362656:E509K	ENSP00000362656:E509K	E	-	1	0	GOLGA1	126691609	0.505000	0.26131	0.581000	0.28614	0.206000	0.24218	0.853000	0.27777	0.698000	0.31739	0.448000	0.29417	GAG		0.512	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		89	450	0	0	0	1	0	89	450				
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367483.4_Silent_p.T538T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647																																						ENST00000445192.2																			1	Substitution - coding silent(1)	p.T579T(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1735-1737)acT>acC		proteoglycan 4							88.0	91.0	90.0					1																	186276588		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276588T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1737T>C	1.37:g.186276588T>C						PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T486T	p.T579T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1782	+			579			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1737T>C	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		19	360	0	0	0	1	0	19	360				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240549	39240549	+	Missense_Mutation	SNP	C	C	G	rs200397258	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:39240549C>G	ENST00000391417.4	+	1	91	c.91C>G	c.(91-93)Cag>Gag	p.Q31E		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	31	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGCTGTCAGACCACCTG	0.632													c|||	90	0.0179712	0.0416	0.013	5008	,	,		15484	0.0198		0.004	False		,,,				2504	0.002					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(91-93)Cag>Gag		keratin associated protein 4-7							16.0	23.0	21.0					17																	39240549		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240549C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.91C>G	17.37:g.39240549C>G	ENSP00000375236:p.Gln31Glu						p.Q31E	NM_033061.3	NP_149050.3					1	91	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.91C>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	1.541	-0.541861	0.04053	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00597	6.31	3.51	-5.02	0.02982	.	0.616411	0.13532	U	0.380865	T	0.00384	0.0012	.	.	.	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.39722	-0.9600	9	0.27785	T	0.31	.	7.7095	0.28669	0.3855:0.2289:0.3856:0.0	.	31	Q9BYR0	KRA47_HUMAN	E	31	ENSP00000375236:Q31E	ENSP00000375236:Q31E	Q	+	1	0	KRTAP4-9;KRTAP4-7	36494075	0.065000	0.20965	0.000000	0.03702	0.181000	0.23173	-0.407000	0.07178	-1.274000	0.02421	-0.505000	0.04504	CAG		0.632	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			16	182	0	0	0	1	0	16	182				
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1336-1338)cGg>cAg		zinc finger, X-linked, duplicated B							63.0	61.0	62.0					X																	57619818		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619818G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1337G>A	X.37:g.57619818G>A	ENSP00000364023:p.Arg446Gln						p.R446Q	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	1550	+			446			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1337G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346960	0.61183	.	.	ENSG00000198455	ENST00000374888	T	0.18810	2.19	3.64	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.52126	1.63	0.52501	D	0.999956	D	0.76494	0.999	D	0.80764	0.994	T	0.05632	-1.0873	10	0.87932	D	0	.	8.2851	0.31924	0.1245:0.0:0.8755:0.0	.	446	P98169	ZXDB_HUMAN	Q	446	ENSP00000364023:R446Q	ENSP00000364023:R446Q	R	+	2	0	ZXDB	57636543	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.599000	0.90856	0.714000	0.32081	0.483000	0.47432	CGG		0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		109	324	0	0	0	1	0	109	324				
WFIKKN2	124857	broad.mit.edu	37	17	48917431	48917431	+	Missense_Mutation	SNP	G	G	A	rs146708003		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:48917431G>A	ENST00000311378.4	+	2	1310	c.782G>A	c.(781-783)cGt>cAt	p.R261H	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	261	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACCATGTGCGTGGCAACGTG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19393	0.0		0.0	False		,,,				2504	0.0					ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(781-783)cGt>cAt		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	97.0	102.0		782	4.4	1.0	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	WFIKKN2	NM_175575.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	261/577	48917431	1,13005	2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917431G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.782G>A	17.37:g.48917431G>A	ENSP00000311184:p.Arg261His					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA	p.R261H	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1310	+			261			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.782G>A	CCDS11575.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.24	3.580087	0.65992	2.27E-4	0.0	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.69806	-0.43;-0.43	5.44	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.360711	0.29126	N	0.013070	T	0.63803	0.2542	N	0.21448	0.665	0.43930	D	0.996584	D	0.54772	0.968	P	0.55871	0.786	T	0.57522	-0.7797	10	0.15952	T	0.53	.	15.6499	0.77084	0.0:0.1374:0.8626:0.0	.	261	Q8TEU8	WFKN2_HUMAN	H	168;261	ENSP00000405889:R168H;ENSP00000311184:R261H	ENSP00000311184:R261H	R	+	2	0	WFIKKN2	46272430	0.157000	0.22836	0.977000	0.42913	0.991000	0.79684	1.787000	0.38704	2.533000	0.85409	0.651000	0.88453	CGT		0.617	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		4	248	0	0	0	1	0	4	248				
PAX1	5075	broad.mit.edu	37	20	21687488	21687488	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:21687488G>A	ENST00000398485.2	+	2	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P209P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	233					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCCGGACCGTACGAGGCAA	0.642																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(697-699)ccG>ccA		paired box 1							37.0	44.0	41.0					20																	21687488		2202	4299	6501	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687488G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.699G>A	20.37:g.21687488G>A						PAX1_ENST00000444366.2_Silent_p.P209P|PAX1_ENST00000460221.1_Intron	p.P233P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	753	+			233					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.699G>A	CCDS13146.2																																																																																				0.642	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	288	0	0	0	1	0	5	288				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			15	186	0	0	0	1	0	15	186				
RSC1A1	6248	broad.mit.edu	37	1	15988099	15988099	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:15988099G>A	ENST00000345034.1	+	1	1736	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATATTGACCGCATTCTCCGT	0.473																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1735-1737)cGc>cAc		regulatory solute carrier protein, family 1, member 1							220.0	202.0	208.0					1																	15988099		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15988099G>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1736G>A	1.37:g.15988099G>A	ENSP00000341963:p.Arg579His					DDI2_ENST00000480945.1_3'UTR	p.R579H	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1736	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	579			UBA.		B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1736G>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254518	0.80135	.	.	ENSG00000215695	ENST00000345034	T	0.57107	0.42	5.96	5.96	0.96718	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.56097	D	0.000027	T	0.56920	0.2018	N	0.08118	0	0.42195	D	0.991743	D	0.89917	1.0	D	0.91635	0.999	T	0.66524	-0.5902	10	0.87932	D	0	-44.9555	19.0	0.92829	0.0:0.0:1.0:0.0	.	579	Q92681	RSCA1_HUMAN	H	579	ENSP00000341963:R579H	ENSP00000341963:R579H	R	+	2	0	RSC1A1	15860686	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.053000	0.57427	2.832000	0.97577	0.655000	0.94253	CGC		0.473	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		5	736	0	0	0	1	0	5	736				
IGKV2D-30	28881	broad.mit.edu	37	2	89976340	89976340	+	RNA	SNP	C	C	T	rs368396735	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:89976340C>T	ENST00000474213.1	+	0	246									immunoglobulin kappa variable 2D-30																		ATCTCCAAGGCGCCTAATTTA	0.517													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		15602	0.001		0.0	False		,,,				2504	0.0					ENST00000474213.1																			0															C		6,3612		1,4,1804	83.0	86.0	85.0			-0.2	0.0	2		85	0,8132		0,0,4066	no	intergenic				1,4,5870	TT,TC,CC		0.0,0.1658,0.0511			89976340	6,11744	1809	4066	5875			0							g.chr2:89976340C>T	X63402		2p11.2	2012-02-08			ENSG00000239571	ENSG00000239571		"""Immunoglobulins / IGK locus"""	5801	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151613		2.37:g.89976340C>T														0	246	+									RNA	SNP	ENST00000474213.1	37																																																																																						0.517	IGKV2D-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323285.1	NG_000833		46	969	0	0	0	1	0	46	969				
RP11-252A24.2	0	broad.mit.edu	37	16	74372765	74372765	+	RNA	SNP	T	T	C	rs2549261	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431																											GAAGTCCCAGTGGGGAACCTT	0.502													.|||	41	0.0081869	0.0053	0.0029	5008	,	,		17977	0.0099		0.0139	False		,,,				2504	0.0082					ENST00000429810.2																			0																																																			0							g.chr16:74372765T>C																													16.37:g.74372765T>C														0	1431	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.502	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	185	0	0	0	1	0	5	185				
SRGAP1	57522	broad.mit.edu	37	12	64377799	64377799	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:64377799A>G	ENST00000355086.3	+	2	664	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	47	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGCTTCTCCAGGATCTGCAA	0.433																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(139-141)cAg>cGg		SLIT-ROBO Rho GTPase activating protein 1							106.0	111.0	109.0					12																	64377799		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64377799A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.140A>G	12.37:g.64377799A>G	ENSP00000347198:p.Gln47Arg					SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R	p.Q47R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	664	+			47			FCH.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.140A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686291	0.88639	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.42513	0.97;0.97;2.57	5.1	5.1	0.69264	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.33691	U	0.004654	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	P;B;B	0.38020	0.615;0.096;0.185	P;B;B	0.50270	0.636;0.106;0.14	T	0.54111	-0.8342	9	.	.	.	.	15.199	0.73120	1.0:0.0:0.0:0.0	.	47;7;47	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	R	47;47;7	ENSP00000347198:Q47R;ENSP00000350480:Q47R;ENSP00000437948:Q7R	.	Q	+	2	0	SRGAP1	62664066	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.262000	0.95591	2.060000	0.61445	0.477000	0.44152	CAG		0.433	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			33	487	0	0	0	1	0	33	487				
OR52A4	390053	broad.mit.edu	37	11	5142557	5142557	+	RNA	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:5142557C>A	ENST00000498233.1	-	0	841							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATCAAGCATCTTGGGCACAA	0.438																																						ENST00000498233.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22															57.0	55.0	55.0					11																	5142557		2201	4298	6499			0							g.chr11:5142557C>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142557C>A													Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	0	841	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							RNA	SNP	ENST00000498233.1	37			.	.	.	.	.	.	.	.	.	.	C	13.16	2.154681	0.38021	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.18	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32133	0.0819	.	.	.	0.23056	N	0.998369	B	0.34290	0.447	B	0.38921	0.285	T	0.38714	-0.9648	6	0.51188	T	0.08	.	3.4013	0.07324	0.0:0.378:0.2029:0.4191	.	84	A6NMU1	O52A4_HUMAN	N	84	.	ENSP00000369727:K84N	K	-	3	2	OR52A4	5099133	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-3.743000	0.00378	0.647000	0.30713	0.650000	0.86243	AAG		0.438	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		70	196	1	0	3.28615e-30	1	3.61295e-30	70	196				
SYT1	6857	broad.mit.edu	37	12	79679566	79679566	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:79679566G>A	ENST00000261205.4	+	5	823		c.e5-1		SYT1_ENST00000457153.2_Splice_Site|SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTTTCTTTCAGTGCCACCGTG	0.368																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.e5-1		synaptotagmin I							130.0	119.0	123.0					12																	79679566		2203	4300	6503	SO:0001630	splice_region_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679566G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.167-1G>A	12.37:g.79679566G>A						SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000457153.2_Splice_Site		NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			5	823	+								Q6AI31	Splice_Site	SNP	ENST00000261205.4	37		CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994229	0.93167	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT1	78203697	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	.		0.368	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639	Intron	45	245	0	0	0	1	0	45	245				
BEND2	139105	broad.mit.edu	37	X	18192194	18192194	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:18192194C>G	ENST00000380033.4	-	12	2069	c.1937G>C	c.(1936-1938)cGa>cCa	p.R646P	BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	646										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGAAGGTTCTCGCATTCCTTC	0.383																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1936-1938)cGa>cCa		BEN domain containing 2							120.0	91.0	101.0					X																	18192194		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18192194C>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1937G>C	X.37:g.18192194C>G	ENSP00000369372:p.Arg646Pro					BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	p.R646P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			12	2069	-			646					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1937G>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	3.692	-0.063396	0.07273	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.25250	1.81;1.83	3.45	-6.89	0.01660	.	4.392740	0.00531	N	0.000217	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B;B	0.28933	0.228;0.228	B;B	0.21151	0.033;0.033	T	0.10109	-1.0644	10	0.35671	T	0.21	3.0061	6.5327	0.22336	0.2703:0.5292:0.0:0.2004	.	555;646	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	P	646;555	ENSP00000369372:R646P;ENSP00000369369:R555P	ENSP00000369369:R555P	R	-	2	0	BEND2	18102115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.213000	0.01224	-2.640000	0.00429	-0.370000	0.07254	CGA		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		74	261	0	0	0	1	0	74	261				
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G	rs201349757		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253.0	273.0	266.0					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1211	0	0	0	1	0	9	1211				
TADA2A	6871	broad.mit.edu	37	17	35830625	35830625	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:35830625G>A	ENST00000394395.2	+	13	1190	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GGCTCCGCCGGCAAGCTGACA	0.507																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1015-1017)cgG>cgA		transcriptional adaptor 2A							94.0	92.0	93.0					17																	35830625		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35830625G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1017G>A	17.37:g.35830625G>A						TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	p.R339R	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			13	1190	+			339					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.1017G>A	CCDS11319.1																																																																																				0.507	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		5	355	0	0	0	1	0	5	355				
GHRL	51738	broad.mit.edu	37	3	10331548	10331548	+	Silent	SNP	C	C	T	rs146899970		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:10331548C>T	ENST00000335542.8	-	4	993	c.123G>A	c.(121-123)tcG>tcA	p.S41S	GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000430179.1_Silent_p.S40S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000429122.1_Silent_p.S41S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRLOS_ENST00000605105.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	41					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GTGGCTTCTTCGACTCCTTTC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16947	0.001		0.0	False		,,,				2504	0.0					ENST00000335542.8																			0				breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(121-123)tcG>tcA		ghrelin/obestatin prepropeptide		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	119.0	127.0	124.0		120,87,84,,123	4.0	1.0	3	dbSNP_134	124	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	,,,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,,,	40/117,29/106,28/105,,41/118	10331548	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331548C>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.123G>A	3.37:g.10331548C>T						GHRL_ENST00000437422.2_Silent_p.S29S|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000429122.1_Silent_p.S41S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000430179.1_Silent_p.S40S	p.S41S			Q9UBU3	GHRL_HUMAN			4	993	-			41					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.123G>A	CCDS33700.1																																																																																				0.572	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		126	545	0	0	0	1	0	126	545				
HERC2P3	283755	broad.mit.edu	37	15	20588554	20588554	+	RNA	SNP	C	C	G	rs112526901	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:20588554C>G	ENST00000428453.1	-	0	4196							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTGGAAAGCGGTTGCAGAA	0.473													G|||	231	0.0461262	0.0613	0.0648	5008	,	,		34353	0.0		0.0606	False		,,,				2504	0.045					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35										G		15,4341		1,13,2164	117.0	88.0	97.0			-0.6	0.0	15	dbSNP_132	97	57,8419		1,55,4182	no	intergenic				2,68,6346	GG,GC,CC		0.6725,0.3444,0.5611			20588554	72,12760	2178	4238	6416			0							g.chr15:20588554C>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588554C>G														0	4196	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.473	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	342	0	0	0	1	0	5	342				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	101	1	0	0.00024832	1	0.000258721	4	101				
ABCC9	10060	broad.mit.edu	37	12	22063212	22063212	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:22063212G>A	ENST00000261201.4	-	8	1198	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261200.4_Missense_Mutation_p.T400M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	400	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAGTTAGACGTAGAGAGCCT	0.348																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1198-1200)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						101.0	101.0	101.0					12																	22063212		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063212G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1199C>T	12.37:g.22063212G>A	ENSP00000261201:p.Thr400Met					ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261201.4_Missense_Mutation_p.T400M	p.T400M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			8	1198	-			400			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1199C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642321	0.87859	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.66	5.66	0.87406	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70016	0.967;0.897	D	0.93643	0.6966	10	0.87932	D	0	-17.543	19.7509	0.96268	0.0:0.0:1.0:0.0	.	400;400	O60706;O60706-2	ABCC9_HUMAN;.	M	400;63;400;400	ENSP00000261200:T400M;ENSP00000440521:T63M;ENSP00000261201:T400M;ENSP00000261202:T400M	ENSP00000261200:T400M	T	-	2	0	ABCC9	21954479	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	9.852000	0.99516	2.664000	0.90586	0.650000	0.86243	ACG		0.348	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		105	266	0	0	0	1	0	105	266				
STAT1	6772	broad.mit.edu	37	2	191859900	191859900	+	Silent	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859900A>T	ENST00000361099.3	-	10	1218	c.831T>A	c.(829-831)ctT>ctA	p.L277L	STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000392322.3_Silent_p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CCAACTTTTTAAGCTGCTGCC	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(829-831)ctT>ctA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						153.0	131.0	138.0					2																	191859900		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191859900A>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.831T>A	2.37:g.191859900A>T						STAT1_ENST00000392322.3_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000409465.1_Silent_p.L277L	p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		10	1218	-			277					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.831T>A	CCDS2309.1																																																																																				0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		5	344	0	0	0	1	0	5	344				
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	175					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592																																						ENST00000537089.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(247-249)Gag>Aag		aquaporin 7							50.0	46.0	48.0					9																	33386077		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33386077C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.247G>A	9.37:g.33386077C>T	ENSP00000441619:p.Glu83Lys					AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K	p.E83K			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	565	-			175					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	N	24.0	4.485614	0.84854	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.98	3.98	0.46160	Aquaporin-like (2);	0.106561	0.64402	D	0.000003	T	0.67618	0.2912	H	0.98238	4.18	0.44789	D	0.997793	P;D;P;D	0.63046	0.9;0.992;0.948;0.982	P;D;P;P	0.70227	0.643;0.968;0.771;0.752	T	0.78526	-0.2170	10	0.87932	D	0	-26.5908	11.903	0.52694	0.0:1.0:0.0:0.0	.	174;175;118;175	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	K	83;174;43;175;118;83;174;175;111	ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K	ENSP00000297988:E175K	E	-	1	0	AQP7	33376077	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	1.723000	0.38053	2.507000	0.84556	0.645000	0.84053	GAG		0.592	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	187	0	0	0	1	0	6	187				
USP26	83844	broad.mit.edu	37	X	132159668	132159668	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:132159668G>A	ENST00000511190.1	-	6	3050	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	861	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTAACACCCGCATATCATCG	0.438																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2581-2583)Cgg>Tgg		ubiquitin specific peptidase 26							139.0	117.0	125.0					X																	132159668		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159668G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2581C>T	X.37:g.132159668G>A	ENSP00000423390:p.Arg861Trp					USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W	p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	3050	-	Acute lymphoblastic leukemia(192;0.000127)		861					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2581C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844003	0.51164	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.33216	1.42;1.42;1.42	3.91	1.06	0.20224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.646050	0.04079	N	0.309366	T	0.28200	0.0696	N	0.14661	0.345	0.09310	N	1	D	0.56746	0.977	P	0.51453	0.67	T	0.21827	-1.0234	10	0.66056	D	0.02	5.8655	6.3523	0.21383	0.0:0.3293:0.3298:0.341	.	861	Q9BXU7	UBP26_HUMAN	W	861	ENSP00000359869:R861W;ENSP00000423390:R861W;ENSP00000384360:R861W	ENSP00000359869:R861W	R	-	1	2	USP26	131987334	0.004000	0.15560	0.000000	0.03702	0.226000	0.24999	0.920000	0.28705	0.086000	0.17137	-0.324000	0.08512	CGG		0.438	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		5	339	0	0	0	1	0	5	339				
IDH2	3418	broad.mit.edu	37	15	90630770	90630770	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:90630770G>A	ENST00000330062.3	-	6	829	c.716C>T	c.(715-717)gCc>gTc	p.A239V	IDH2_ENST00000559482.1_Missense_Mutation_p.A130V|IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	239					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTCTGGATGGCATACTGGAA	0.562			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(715-717)gCc>gTc		isocitrate dehydrogenase 2 (NADP+), mitochondrial							177.0	167.0	170.0					15																	90630770		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630770G>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.716C>T	15.37:g.90630770G>A	ENSP00000331897:p.Ala239Val		OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V	p.A239V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		6	829	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		239					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.716C>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556943	0.65425	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.89485	-2.52;-2.52;-2.52	5.74	5.74	0.90152	Isopropylmalate dehydrogenase-like domain (2);	0.101003	0.64402	D	0.000002	D	0.96738	0.8935	H	0.98005	4.125	0.49582	D	0.9998	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.943	D	0.97950	1.0331	10	0.87932	D	0	.	17.4143	0.87495	0.0:0.0:1.0:0.0	.	239;239	Q53GL5;P48735	.;IDHP_HUMAN	V	239;109;187	ENSP00000331897:A239V;ENSP00000438457:A109V;ENSP00000446147:A187V	ENSP00000331897:A239V	A	-	2	0	IDH2	88431774	1.000000	0.71417	0.978000	0.43139	0.002000	0.02628	7.797000	0.85911	2.721000	0.93114	0.491000	0.48974	GCC		0.562	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			6	655	0	0	0	1	0	6	655				
T	6862	broad.mit.edu	37	6	166572035	166572035	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:166572035G>A	ENST00000296946.2	-	9	1544	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	T_ENST00000366871.3_Missense_Mutation_p.T301I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	359					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAGCCCGGGGTGACGGCGCC	0.687									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1075-1077)aCc>aTc		T, brachyury homolog (mouse)							14.0	18.0	17.0					6																	166572035		2197	4290	6487	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166572035G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1076C>T	6.37:g.166572035G>A	ENSP00000296946:p.Thr359Ile					T_ENST00000366871.3_Missense_Mutation_p.T301I	p.T359I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1544	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	359					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1076C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983254	0.35036	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83914	-1.78;-1.78	4.92	4.03	0.46877	.	0.368313	0.26109	N	0.026292	T	0.71736	0.3375	M	0.65975	2.015	0.48087	D	0.999585	P;B;P	0.36392	0.551;0.005;0.551	B;B;B	0.36885	0.235;0.017;0.235	T	0.71248	-0.4649	10	0.23891	T	0.37	.	12.083	0.53682	0.084:0.0:0.916:0.0	.	301;359;301	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	I	359;359;301	ENSP00000296946:T359I;ENSP00000355836:T301I	ENSP00000296946:T359I	T	-	2	0	T	166492025	1.000000	0.71417	0.002000	0.10522	0.387000	0.30353	5.408000	0.66368	2.406000	0.81754	0.655000	0.94253	ACC		0.687	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		22	41	0	0	0	1	0	22	41				
OR2A5	393046	broad.mit.edu	37	7	143748124	143748124	+	Silent	SNP	G	G	A	rs372854651		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(628-630)ccG>ccA		olfactory receptor, family 2, subfamily A, member 5		G		0,4028		0,0,2014	126.0	129.0	128.0		630	-2.7	1.0	7		128	3,8343		0,3,4170	no	coding-synonymous	OR2A5	NM_012365.1		0,3,6184	AA,AG,GG		0.0359,0.0,0.0242		210/312	143748124	3,12371	2014	4173	6187	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748124G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.630G>A	7.37:g.143748124G>A							p.P210P	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	664	+	Melanoma(164;0.0783)		210					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.630G>A	CCDS43668.1																																																																																				0.597	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			6	759	0	0	0	1	0	6	759				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	361	0	0	0	1	0	6	361				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			0							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		5	29	0	0	0	1	0	5	29				
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A	rs200173482		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4243-4245)agG>agT		filaggrin family member 2							268.0	254.0	259.0					1																	152326017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4245G>T	1.37:g.152326017C>A	ENSP00000373370:p.Arg1415Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.R1415S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667351	0.03428	.	.	ENSG00000143520	ENST00000388718	T	0.03663	3.85	3.86	-7.71	0.01254	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47886	-0.9082	9	0.07325	T	0.83	0.4423	1.4492	0.02371	0.1718:0.1676:0.3822:0.2784	.	1415	Q5D862	FILA2_HUMAN	S	1415	ENSP00000373370:R1415S	ENSP00000373370:R1415S	R	-	3	2	FLG2	150592641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.701000	0.00005	-2.959000	0.00290	-0.514000	0.04452	AGG		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1074	1	0	1.06961e-07	1	1.15056e-07	8	1074				
METTL15	196074	broad.mit.edu	37	11	28311787	28311787	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:28311787C>G	ENST00000407364.3	+	5	794	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E|METTL15_ENST00000342303.5_Missense_Mutation_p.Q148E			A6NJ78	MET15_HUMAN	methyltransferase like 15	148							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CCAGTTCAGCCAGGCAGAAGC	0.433																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(442-444)Cag>Gag		methyltransferase like 15							44.0	44.0	44.0					11																	28311787		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28311787C>G	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.442C>G	11.37:g.28311787C>G	ENSP00000384369:p.Gln148Glu					METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E|METTL15_ENST00000407364.3_Missense_Mutation_p.Q148E	p.Q148E	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			5	897	+			148					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.442C>G	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700273	0.30142	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000407364;ENST00000303459	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.88	4.96	0.65561	.	0.116199	0.64402	D	0.000018	T	0.20577	0.0495	N	0.10916	0.065	0.80722	D	1	B;B;B	0.32781	0.001;0.001;0.384	B;B;B	0.38264	0.013;0.005;0.269	T	0.09357	-1.0678	9	.	.	.	.	14.6247	0.68614	0.0:0.7232:0.2768:0.0	.	148;148;148	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	E	148	ENSP00000385507:Q148E;ENSP00000342259:Q148E;ENSP00000384369:Q148E;ENSP00000307251:Q148E	.	Q	+	1	0	METTL15	28268363	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.311000	0.33562	1.484000	0.48361	0.655000	0.94253	CAG		0.433	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		39	94	0	0	0	1	0	39	94				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	46	1	0	8.12818e-05	1	8.5132e-05	4	46				
GTF2IRD1	9569	broad.mit.edu	37	7	74005322	74005322	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:74005322G>A	ENST00000265755.3	+	24	3005	c.2612G>A	c.(2611-2613)cGc>cAc	p.R871H	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	871					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCATGTCCGCATGGTCATC	0.612																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2566-2568)cGc>cAc		GTF2I repeat domain containing 1							73.0	65.0	68.0					7																	74005322		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74005322G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2612G>A	7.37:g.74005322G>A	ENSP00000265755:p.Arg871His					GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R871H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H	p.R856H			Q9UHL9	GT2D1_HUMAN			24	4258	+			871					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2567G>A	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117457	0.37339	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.51	2.74	0.32292	.	0.414937	0.24879	N	0.034877	T	0.18257	0.0438	N	0.03608	-0.345	0.29184	N	0.876305	B;B;B;B	0.33857	0.124;0.245;0.429;0.211	B;B;B;B	0.34242	0.028;0.087;0.178;0.076	T	0.08554	-1.0716	10	0.49607	T	0.09	-16.5833	5.9352	0.19161	0.1572:0.0:0.6884:0.1544	.	888;856;871;856	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	H	871;888;856;856	ENSP00000265755:R871H;ENSP00000397566:R888H;ENSP00000408477:R856H;ENSP00000418383:R856H	ENSP00000265755:R871H	R	+	2	0	GTF2IRD1	73643258	0.997000	0.39634	0.965000	0.40720	0.060000	0.15804	2.041000	0.41213	0.719000	0.32188	-0.987000	0.02553	CGC		0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		5	315	0	0	0	1	0	5	315				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		11	276	0	0	0	1	0	11	276				
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Splice_Site	SNP	G	G	A	rs532447307		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20357449G>A	ENST00000570689.1	-	5	1327	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000396134.2_Splice_Site_p.T427M			P07911	UROM_HUMAN	uromodulin	394	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18519	0.001		0.0	False		,,,				2504	0.0					ENST00000396134.2																			1	Substitution - Missense(1)	p.T394M(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e6+1		uromodulin							32.0	33.0	33.0					16																	20357449		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357449G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1182+1C>T	16.37:g.20357449G>A						UMOD_ENST00000570689.1_Splice_Site_p.T394_splice|UMOD_ENST00000424589.1_Splice_Site_p.T427_splice|UMOD_ENST00000302509.4_Splice_Site_p.T394_splice|UMOD_ENST00000396138.4_Splice_Site_p.T443_splice|UMOD_ENST00000396142.2_Splice_Site_p.T394_splice	p.T427_splice	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			6	1403	-			394			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Splice_Site	SNP	ENST00000570689.1	37	c.1281_splice	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520286	0.27211	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.85	1.14	0.20703	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.386132	0.22253	N	0.062527	T	0.64461	0.2600	N	0.19112	0.55	0.26258	N	0.978613	B;B	0.30511	0.282;0.153	B;B	0.21546	0.035;0.028	T	0.55496	-0.8132	10	0.48119	T	0.1	-8.2654	4.7982	0.13282	0.2971:0.1786:0.5244:0.0	.	427;394	E9PEA4;P07911	.;UROM_HUMAN	M	394;427;427;394;372;394	ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M	ENSP00000306279:T394M	T	-	2	0	UMOD	20264950	0.970000	0.33590	1.000000	0.80357	0.841000	0.47740	-0.116000	0.10724	0.409000	0.25649	0.491000	0.48974	ACG		0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		Missense_Mutation	27	132	0	0	0	1	0	27	132				
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59.0	62.0	61.0					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		4	365	0	0	0	1	0	4	365				
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(229-231)caG>caA		TATA box binding protein							14.0	18.0	17.0					6																	170871055		1934	3804	5738	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871055G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A						TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	510	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	77			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.231G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		14	101	0	0	0	1	0	14	101				
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	rs370258691		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177.0	179.0	179.0		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val					ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	p.A445V			O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		7	1239	0	0	0	1	0	7	1239				
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(181-183)ctG>ctA		slowmo homolog 2 (Drosophila)							89.0	86.0	87.0					20																	57613539		1899	4125	6024	SO:0001819	synonymous_variant	51012							g.chr20:57613539C>T	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.183G>A	20.37:g.57613539C>T						SLMO2_ENST00000371033.5_Silent_p.L61L	p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	361	-	all_lung(29;0.00711)		61			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	c.183G>A	CCDS42893.1																																																																																				0.443	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		6	420	0	0	0	1	0	6	420				
DMD	1756	broad.mit.edu	37	X	32591647	32591647	+	Splice_Site	SNP	G	G	A	rs140919039		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:32591647G>A	ENST00000357033.4	-	15	2018	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	DMD_ENST00000378677.2_Splice_Site_p.A600A|DMD_ENST00000288447.4_Splice_Site_p.A596A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	604					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTACATACGGCCAGTTTTT	0.308													G|||	3	0.000794702	0.0023	0.0	3775	,	,		12424	0.0		0.0	False		,,,				2504	0.0					ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.e15+1		dystrophin		G	,,,,	4,3827		0,3,1,1627,570	87.0	79.0	82.0		1788,1812,1443,1800,1443	-4.1	0.0	X	dbSNP_134	82	0,6727		0,0,0,2428,1871	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	0,3,1,4055,2441	AA,AG,A,GG,G		0.0,0.1044,0.0379	,,,,	596/3678,604/3686,481/3563,600/3682,481/3563	32591647	4,10554	2201	4299	6500	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591647G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1812+1C>T	X.37:g.32591647G>A						DMD_ENST00000378677.2_Splice_Site_p.A600_splice|DMD_ENST00000288447.4_Splice_Site_p.A596_splice	p.A604_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			15	2018	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	604					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.1812_splice	CCDS14233.1																																																																																				0.308	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Silent	72	206	0	0	0	1	0	72	206				
SLC12A9	56996	broad.mit.edu	37	7	100463679	100463679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100463679C>T	ENST00000354161.3	+	14	2322	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	733					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAACCTGCTGCGGCCCCGGGG	0.711																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2197-2199)Cgg>Tgg		solute carrier family 12, member 9							77.0	98.0	91.0					7																	100463679		2191	4276	6467	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463679C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2197C>T	7.37:g.100463679C>T	ENSP00000275730:p.Arg733Trp						p.R733W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2322	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		733					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2197C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074321	0.76415	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91686	-2.89	5.24	3.32	0.38043	.	0.069807	0.56097	D	0.000035	D	0.93321	0.7871	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.92644	0.6127	10	0.87932	D	0	.	11.8725	0.52529	0.3159:0.6841:0.0:0.0	.	733	Q9BXP2	S12A9_HUMAN	W	733;359	ENSP00000275730:R733W	ENSP00000275730:R733W	R	+	1	2	SLC12A9	100301615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.454000	0.52986	0.517000	0.28361	0.555000	0.69702	CGG		0.711	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		7	971	0	0	0	1	0	7	971				
APC	324	broad.mit.edu	37	5	112170693	112170693	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:112170693G>A	ENST00000457016.1	+	15	2169	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A597T|APC_ENST00000257430.4_Missense_Mutation_p.A597T			P25054	APC_HUMAN	adenomatous polyposis coli	597	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATTTGTCAGCACATTGCAC	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1789-1791)Gca>Aca		adenomatous polyposis coli							198.0	163.0	175.0					5																	112170693		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112170693G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1789G>A	5.37:g.112170693G>A	ENSP00000413133:p.Ala597Thr	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.A597T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A597T	p.A597T			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	15	2169	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	597			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1789G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859311	0.97036	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.95171	-2.91;-3.63;-2.91;-2.91;-3.09	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.97492	1.0054	10	0.87932	D	0	-19.1568	20.3409	0.98764	0.0:0.0:1.0:0.0	.	599;597	Q4LE70;P25054	.;APC_HUMAN	T	597;579;597;597;597	ENSP00000413133:A597T;ENSP00000423224:A579T;ENSP00000257430:A597T;ENSP00000427089:A597T;ENSP00000423828:A597T	ENSP00000257430:A597T	A	+	1	0	APC	112198592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GCA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		5	410	0	0	0	1	0	5	410				
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:129155916G>A	ENST00000249910.1	-	3	746	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000429544.2_Missense_Mutation_p.P191S|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(571-573)Ccg>Tcg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							145.0	153.0	151.0					3																	129155916		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155916G>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.571C>T	3.37:g.129155916G>A	ENSP00000249910:p.Pro191Ser					MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron	p.P191S	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	766	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.571C>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG		0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		5	567	0	0	0	1	0	5	567				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	154	0	0	0	1	0	4	154				
PCDHGA2	56113	broad.mit.edu	37	5	140719009	140719009	+	Silent	SNP	G	G	A	rs151023570		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140719009G>A	ENST00000394576.2	+	1	471	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	157	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAATGCGCATGATGCAG	0.498																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(469-471)gcG>gcA									82.0	80.0	81.0					5																	140719009		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719009G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.471G>A	5.37:g.140719009G>A						PCDHGA1_ENST00000517417.1_Intron	p.A157A	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	471	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.471G>A	CCDS47289.1																																																																																				0.498	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		13	481	0	0	0	1	0	13	481				
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(217-219)cGc>cAc		histone cluster 1, H2be							119.0	116.0	117.0					6																	26184241		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184241G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.218G>A	6.37:g.26184241G>A	ENSP00000348924:p.Arg73His						p.R73H	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	284	+			73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.218G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676040	0.47886	.	.	ENSG00000197697	ENST00000356530	T	0.69561	-0.41	4.96	4.96	0.65561	.	0.000000	0.34555	U	0.003862	T	0.73560	0.3602	.	.	.	0.52501	D	0.999953	.	.	.	.	.	.	T	0.74734	-0.3565	7	0.49607	T	0.09	.	17.6163	0.88068	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000348924:R73H	ENSP00000348924:R73H	R	+	2	0	HIST1H2BE	26292220	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.562000	0.82300	2.479000	0.83701	0.537000	0.68136	CGC		0.597	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		5	545	0	0	0	1	0	5	545				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			6	302	0	0	0	1	0	6	302				
MIB1	57534	broad.mit.edu	37	18	19429284	19429284	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:19429284T>C	ENST00000261537.6	+	17	2785	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	841					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTACCTGTTCTTTATGTTC	0.343																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(2521-2523)Tct>Cct		mindbomb E3 ubiquitin protein ligase 1							166.0	154.0	158.0					18																	19429284		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19429284T>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2521T>C	18.37:g.19429284T>C	ENSP00000261537:p.Ser841Pro					MIB1_ENST00000578646.1_3'UTR	p.S841P	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		17	2785	+			841					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2521T>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.554016	0.65425	.	.	ENSG00000101752	ENST00000261537	T	0.79554	-1.28	5.33	5.33	0.75918	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.77103	2.36	0.80722	D	1	P	0.49961	0.93	P	0.62184	0.899	D	0.88191	0.2877	10	0.40728	T	0.16	-11.9712	15.3214	0.74124	0.0:0.0:0.0:1.0	.	841	Q86YT6	MIB1_HUMAN	P	841	ENSP00000261537:S841P	ENSP00000261537:S841P	S	+	1	0	MIB1	17683282	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.019000	0.59389	0.477000	0.44152	TCT		0.343	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		68	388	0	0	0	1	0	68	388				
HSPB6	126393	broad.mit.edu	37	19	36244964	36244964	+	IGR	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:36244964C>T	ENST00000592984.1	-	0	1634				AC002398.11_ENST00000591091.1_RNA|AC002398.9_ENST00000591613.2_3'UTR|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.P164L			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACAAGCTGCCGCCACCCACA	0.632																																						ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(490-492)cCg>cTg		lin-37 homolog (C. elegans)							52.0	60.0	58.0					19																	36244964		2002	4168	6170	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36244964C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36244964C>T						AC002398.9_ENST00000591613.2_3'UTR	p.P164L	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	855	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		164			Pro-rich.		O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.491C>T	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589252	0.86851	.	.	ENSG00000188223	ENST00000301159	D	0.82081	-1.57	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91683	0.7371	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92687	0.6163	10	0.87932	D	0	-26.5281	15.6642	0.77213	0.0:1.0:0.0:0.0	.	164	Q96GY3	LIN37_HUMAN	L	164	ENSP00000301159:P164L	ENSP00000301159:P164L	P	+	2	0	LIN37	40936804	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.592000	0.67543	2.670000	0.90874	0.655000	0.94253	CCG		0.632	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		15	512	0	0	0	1	0	15	512				
EIF2B5	8893	broad.mit.edu	37	3	183860631	183860631	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:183860631G>A	ENST00000273783.3	+	11	1733	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	EIF2B5_ENST00000444495.1_Silent_p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	537					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATTCTGAGGAGCCGGACAGCC	0.483																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(1609-1611)gaG>gaA		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							34.0	39.0	38.0					3																	183860631		2202	4300	6502	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860631G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1611G>A	3.37:g.183860631G>A						EIF2B5_ENST00000444495.1_Silent_p.E537E	p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		11	1733	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		537					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.1611G>A	CCDS3252.1																																																																																				0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			16	72	0	0	0	1	0	16	72				
RACGAP1	29127	broad.mit.edu	37	12	50410450	50410450	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:50410450G>A	ENST00000427314.2	-	4	272	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCACCCGGCGCACAAGCTGC	0.438																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(49-51)Cgc>Tgc		Rac GTPase activating protein 1							131.0	140.0	137.0					12																	50410450		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50410450G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.49C>T	12.37:g.50410450G>A	ENSP00000404190:p.Arg17Cys					RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C	p.R17C			Q9H0H5	RGAP1_HUMAN			3	350	-			17						Missense_Mutation	SNP	ENST00000427314.2	37	c.49C>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099325	0.76983	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.7	4.81	0.61882	.	0.320727	0.37715	N	0.001971	T	0.76535	0.4001	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.52957	0.714	T	0.79923	-0.1598	10	0.87932	D	0	-2.9543	14.6535	0.68814	0.0695:0.0:0.9304:0.0	.	17	Q9H0H5	RGAP1_HUMAN	C	17;17;17;17;17;17;17;17;29;17;17;17;17;17;17;17	ENSP00000404190:R17C;ENSP00000309871:R17C;ENSP00000413241:R17C;ENSP00000404808:R17C;ENSP00000449374:R17C;ENSP00000449370:R17C;ENSP00000448697:R17C;ENSP00000449170:R17C;ENSP00000449620:R29C;ENSP00000449669:R17C;ENSP00000447393:R17C;ENSP00000447177:R17C;ENSP00000449186:R17C;ENSP00000448707:R17C;ENSP00000449959:R17C;ENSP00000448136:R17C	ENSP00000309871:R17C	R	-	1	0	RACGAP1	48696717	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.287000	0.72671	1.411000	0.46957	0.650000	0.86243	CGC		0.438	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		5	573	0	0	0	1	0	5	573				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		5	253	0	0	0	1	0	5	253				
SMURF2P1	107133516	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs370997062		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:28935540G>A	ENST00000579301.1	+	0	391									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		CGTTGTGTTCGTCTTTTTCCA	0.363																																						ENST00000578265.1																			0																																																			0							g.chr17:28935540G>A			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935540G>A														0	193	+									RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			4	98	0	0	0	1	0	4	98				
SFXN3	81855	broad.mit.edu	37	10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:102795364G>A	ENST00000224807.5	+	4	740	c.284G>A	c.(283-285)cGc>cAc	p.R95H	SFXN3_ENST00000393459.1_Missense_Mutation_p.R91H	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	95					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.R95H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTGATTGGCCGCATGTCAGCC	0.587																																						ENST00000393459.1																			1	Substitution - Missense(1)	p.R95H(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(271-273)cGc>cAc		sideroflexin 3							122.0	92.0	102.0					10																	102795364		2203	4300	6503	SO:0001583	missense	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102795364G>A	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.284G>A	10.37:g.102795364G>A	ENSP00000224807:p.Arg95His					SFXN3_ENST00000224807.5_Missense_Mutation_p.R95H	p.R91H			Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	745	+		Colorectal(252;0.234)	95					Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	ENST00000224807.5	37	c.272G>A	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	G	31	5.093229	0.94149	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.57595	0.39;0.39	5.11	4.19	0.49359	.	0.103262	0.64402	D	0.000005	T	0.80237	0.4586	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	D	0.86037	0.1517	10	0.87932	D	0	-15.974	14.1571	0.65424	0.0737:0.0:0.9262:0.0	.	95;95;95	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	H	91;95	ENSP00000377103:R91H;ENSP00000224807:R95H	ENSP00000224807:R95H	R	+	2	0	SFXN3	102785354	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.802000	0.85969	2.652000	0.90054	0.561000	0.74099	CGC		0.587	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		4	174	0	0	0	1	0	4	174				
DHRS4	10901	broad.mit.edu	37	14	24429144	24429144	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:24429144G>C	ENST00000313250.5	+	3	543	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	114					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CGATATCCTAGTCTCCAATGC	0.522																																						ENST00000313250.5																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(340-342)Gtc>Ctc		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)						297.0	345.0	329.0					14																	24429144		2203	4300	6503	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24429144G>C	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.340G>C	14.37:g.24429144G>C	ENSP00000326219:p.Val114Leu					DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	p.V114L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	543	+			114					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.340G>C	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065559	0.36470	.	.	ENSG00000157326	ENST00000313250;ENST00000382761;ENST00000397075;ENST00000543741	T;T;D;T	0.90444	0.62;1.22;-2.67;1.22	3.1	1.21	0.21127	NAD(P)-binding domain (1);	0.130045	0.51477	D	0.000095	D	0.93595	0.7955	M	0.88979	2.995	0.45452	D	0.998421	P;P;P;P	0.41569	0.514;0.59;0.663;0.755	B;P;B;P	0.54544	0.329;0.51;0.346;0.755	D	0.91433	0.5167	10	0.66056	D	0.02	.	7.0353	0.24991	0.2376:0.0:0.7624:0.0	.	114;114;114;114	F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2	.;.;.;DHRS4_HUMAN	L	114;96;114;114	ENSP00000326219:V114L;ENSP00000372209:V96L;ENSP00000380265:V114L;ENSP00000440508:V114L	ENSP00000326219:V114L	V	+	1	0	DHRS4	23498984	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	3.267000	0.51577	0.166000	0.19597	0.555000	0.69702	GTC		0.522	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			62	1441	0	0	0	1	0	62	1441				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	445	0	0	0	1	0	6	445				
RETSAT	54884	broad.mit.edu	37	2	85571747	85571747	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:85571747T>C	ENST00000295802.4	-	7	1338	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	409					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATAGTAAACATAGTAGTTGGT	0.567																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1225-1227)tAt>tGt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						132.0	107.0	116.0					2																	85571747		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571747T>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1226A>G	2.37:g.85571747T>C	ENSP00000295802:p.Tyr409Cys					RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C	p.Y409C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			7	1338	-			409					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1226A>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.031158|3.031158	0.54790|0.54790	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T	.|0.23754	.|1.92;1.89	4.62|4.62	0.301|0.301	0.15781|0.15781	.|.	.|0.505894	.|0.23504	.|N	.|0.047471	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.60455|0.60455	1.87|1.87	0.31918|0.31918	N|N	0.613849|0.613849	.|D;D;D	.|0.62365	.|0.991;0.967;0.985	.|P;P;P	.|0.57324	.|0.818;0.818;0.571	T|T	0.43393|0.43393	-0.9394|-0.9394	5|10	.|0.52906	.|T	.|0.07	-5.281|-5.281	8.9397|8.9397	0.35722|0.35722	0.5511:0.0:0.0:0.4489|0.5511:0.0:0.0:0.4489	.|.	.|348;348;409	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	V|C	198|409;409;348	.|ENSP00000295802:Y409C;ENSP00000405040:Y348C	.|ENSP00000263854:Y409C	M|Y	-|-	1|2	0|0	RETSAT|RETSAT	85425258|85425258	0.005000|0.005000	0.15991|0.15991	0.987000|0.987000	0.45799|0.45799	0.861000|0.861000	0.49209|0.49209	0.074000|0.074000	0.14662|0.14662	0.197000|0.197000	0.20387|0.20387	0.459000|0.459000	0.35465|0.35465	ATG|TAT		0.567	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		55	214	0	0	0	1	0	55	214				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		9	134	0	0	0	1	0	9	134				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	226	0	0	0	1	0	6	226				
MUC5AC	4586	broad.mit.edu	37	11	1159032	1159032	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:1159032G>A	ENST00000356191.2	+	15	1201	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	404					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGCTGCCTATGCCCCAGGGGC	0.657																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1201-1203)Gcc>Acc		mucin 5AC, oligomeric mucus/gel-forming							72.0	71.0	71.0					11																	1159032		875	1990	2865	SO:0001583	missense	4586							g.chr11:1159032G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1201G>A	11.37:g.1159032G>A	ENSP00000348519:p.Ala401Thr						p.A401T						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	15	1201	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1201G>A		.	.	.	.	.	.	.	.	.	.	g	15.58	2.876915	0.51801	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.21932	1.98;1.98	3.87	-3.38	0.04883	.	.	.	.	.	T	0.14743	0.0356	M	0.79343	2.45	.	.	.	P	0.38827	0.649	B	0.28638	0.092	T	0.21518	-1.0243	8	0.21540	T	0.41	.	1.9666	0.03397	0.1568:0.1603:0.4409:0.242	.	404	A7Y9J9	.	T	404;401	ENSP00000435591:A404T;ENSP00000348519:A401T	ENSP00000348519:A401T	A	+	1	0	MUC5AC	1149032	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.179000	0.03090	-0.589000	0.05874	0.443000	0.29094	GCC		0.657	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		84	305	0	0	0	1	0	84	305				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	190	0	0	0	1	0	7	190				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		5	652	0	0	0	1	0	5	652				
MUC4	4585	broad.mit.edu	37	3	195515463	195515463	+	Silent	SNP	G	G	A	rs200036832		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:195515463G>A	ENST00000463781.3	-	2	3447	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	MUC4_ENST00000475231.1_Silent_p.T996T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	420	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T996T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCATCGGTGACATGAA	0.582																																						ENST00000463781.3																			1	Substitution - coding silent(1)	p.T996T(1)	endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2986-2988)acC>acT		mucin 4, cell surface associated							54.0	45.0	48.0					3																	195515463		2197	4263	6460	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515463G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2988C>T	3.37:g.195515463G>A						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T	p.T996T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3447	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1001			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2988C>T	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	39	0	0	0	1	0	3	39				
FAM58A	92002	broad.mit.edu	37	X	152861517	152861517	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:152861517C>T	ENST00000406277.2	-	4	337	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	81					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.G47S(2)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTGCCGGCCAAGTAA	0.527													C|||	1	0.000264901	0.0	0.0	3775	,	,		15638	0.001		0.0	False		,,,				2504	0.0					ENST00000406277.2																			2	Substitution - Missense(2)	p.G47S(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6						c.(235-237)Ggc>Agc		family with sequence similarity 58, member A							162.0	139.0	147.0					X																	152861517		2203	4300	6503	SO:0001583	missense	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152861517C>T	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.235G>A	X.37:g.152861517C>T	ENSP00000384396:p.Gly79Ser					FAM58A_ENST00000370175.4_5'UTR	p.G79S	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN			4	337	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		81					Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37	c.235G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545785|4.545785	0.86022|0.86022	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173;ENST00000428722|ENST00000429336	T|.	0.38077|.	1.16|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52549|0.52549	0.1741|0.1741	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	P;D|.	0.54772|.	0.917;0.968|.	B;P|.	0.50082|.	0.217;0.63|.	T|T	0.49293|0.49293	-0.8955|-0.8955	10|5	0.20519|.	T|.	0.43|.	-43.1794|-43.1794	16.168|16.168	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81;81|.	Q8N1B3-2;Q8N1B3|.	.;FA58A_HUMAN|.	S|Q	47;79;47;79;79;47|2	ENSP00000384396:G79S|.	ENSP00000276345:G79S|.	G|R	-|-	1|2	0|0	FAM58A|FAM58A	152514711|152514711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.890000|0.890000	0.51754|0.51754	5.353000|5.353000	0.66034|0.66034	2.156000|2.156000	0.67533|0.67533	0.594000|0.594000	0.82650|0.82650	GGC|CGG		0.527	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274		5	671	0	0	0	1	0	5	671				
BIRC6	57448	broad.mit.edu	37	2	32582309	32582309	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:32582309G>A	ENST00000421745.2	+	1	214	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	27					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCGCAGGCCGGAAGATGGCG	0.746																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(79-81)cGg>cAg		baculoviral IAP repeat containing 6							2.0	2.0	2.0					2																	32582309		1620	3581	5201	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32582309G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.80G>A	2.37:g.32582309G>A	ENSP00000393596:p.Arg27Gln						p.R27Q	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			1	214	+	Acute lymphoblastic leukemia(172;0.155)		27					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.80G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653258	0.88056	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	3.94	3.94	0.45596	.	.	.	.	.	T	0.58623	0.2135	N	0.08118	0	0.30688	N	0.75164	D	0.63880	0.993	B	0.44108	0.441	T	0.63839	-0.6546	9	0.62326	D	0.03	.	13.3635	0.60669	0.0:0.0:1.0:0.0	.	27	Q9NR09	BIRC6_HUMAN	Q	27	ENSP00000393596:R27Q	ENSP00000393596:R27Q	R	+	2	0	BIRC6	32435813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.268000	0.51585	2.198000	0.70561	0.563000	0.77884	CGG		0.746	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	18	0	0	0	1	0	11	18				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		10	292	1	0	1.58986e-06	1	1.69189e-06	10	292				
GAS2L2	246176	broad.mit.edu	37	17	34074090	34074090	+	Missense_Mutation	SNP	G	G	A	rs373436768		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:34074090G>A	ENST00000254466.6	-	5	1057	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	344					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGTTCCCTGCGGGGTCTGGGG	0.627																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1030-1032)Cgc>Tgc		growth arrest-specific 2 like 2		G	CYS/ARG	0,4400		0,0,2200	23.0	28.0	26.0		1030	-4.7	0.0	17		26	1,8591		0,1,4295	no	missense	GAS2L2	NM_139285.3	180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	344/881	34074090	1,12991	2200	4296	6496	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074090G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1030C>T	17.37:g.34074090G>A	ENSP00000254466:p.Arg344Cys					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	p.R344C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1057	-		Ovarian(249;0.17)	344					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1030C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975671	0.18736	0.0	1.16E-4	ENSG00000132139	ENST00000254466	T	0.20069	2.1	4.8	-4.68	0.03309	.	1.579220	0.03355	N	0.196716	T	0.20170	0.0485	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35226	-0.9797	10	0.45353	T	0.12	2.3467	11.3093	0.49353	0.6232:0.0:0.3768:0.0	.	344	Q8NHY3	GA2L2_HUMAN	C	344	ENSP00000254466:R344C	ENSP00000254466:R344C	R	-	1	0	GAS2L2	31098203	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-1.053000	0.03218	-0.258000	0.10820	CGC		0.627	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		105	232	0	0	0	1	0	105	232				
DENND4B	9909	broad.mit.edu	37	1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	rs3835302		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACctgctcctgctgctgctgc	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2728-2730)Cag>Gag		DENN/MADD domain containing 4B							23.0	26.0	25.0					1																	153907281		2184	4283	6467	SO:0001583	missense	9909							g.chr1:153907281G>C	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2728C>G	1.37:g.153907281G>C	ENSP00000354597:p.Gln910Glu						p.Q910E	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3146	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		910			Gln-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2728C>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.472	-0.559641	0.03967	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06142	3.35;3.34	3.46	-0.019	0.13961	.	5.533310	0.00166	N	0.000005	T	0.00784	0.0026	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.32455	-0.9906	10	0.05833	T	0.94	.	5.5137	0.16894	0.0:0.2087:0.4093:0.382	.	910	O75064	DEN4B_HUMAN	E	910;921	ENSP00000354597:Q910E;ENSP00000357635:Q921E	ENSP00000354597:Q910E	Q	-	1	0	DENND4B	152173905	0.001000	0.12720	0.930000	0.37139	0.549000	0.35272	0.424000	0.21330	0.270000	0.21984	0.264000	0.19307	CAG		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	155	0	0	0	1	0	4	155				
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T	rs557071025	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2704-2706)caG>caA		DENN/MADD domain containing 4B							30.0	39.0	36.0					1																	153907303		2184	4281	6465	SO:0001819	synonymous_variant	9909							g.chr1:153907303C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2706G>A	1.37:g.153907303C>T							p.Q902Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3124	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		902			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2706G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	252	0	0	0	1	0	6	252				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		12	191	0	0	0	1	0	12	191				
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			6	392	0	0	0	1	0	6	392				
C5orf51	285636	broad.mit.edu	37	5	41909846	41909846	+	Splice_Site	SNP	A	A	T	rs199681766		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:41909846A>T	ENST00000381647.2	+	3	226		c.e3-1		C5orf51_ENST00000505931.2_Splice_Site	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51									p.?(1)		endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTTTTTTTTTAGGCTATTTTG	0.294																																						ENST00000381647.2																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e3-1		chromosome 5 open reading frame 51							24.0	26.0	25.0					5																	41909846		2136	4257	6393	SO:0001630	splice_region_variant	285636							g.chr5:41909846A>T	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.208-1A>T	5.37:g.41909846A>T						C5orf51_ENST00000505931.2_Splice_Site		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			3	226	+								A2RRM9	Splice_Site	SNP	ENST00000381647.2	37		CCDS34151.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.545044	0.65198	.	.	ENSG00000205765	ENST00000381647	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6345	0.62215	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C5orf51	41945603	1.000000	0.71417	0.947000	0.38551	0.792000	0.44763	7.892000	0.87324	1.961000	0.56991	0.533000	0.62120	.		0.294	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921	Intron	6	197	0	0	0	1	0	6	197				
NRK	203447	broad.mit.edu	37	X	105183982	105183982	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:105183982A>G	ENST00000243300.9	+	23	4219	c.3916A>G	c.(3916-3918)Aaa>Gaa	p.K1306E	NRK_ENST00000428173.2_Missense_Mutation_p.K1307E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1306	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGCCTGCAAAGCTATTGA	0.388										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3919-3921)Aaa>Gaa		Nik related kinase							80.0	74.0	76.0					X																	105183982		1865	4093	5958	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105183982A>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3916A>G	X.37:g.105183982A>G	ENSP00000434830:p.Lys1306Glu	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.K1306E	p.K1307E			Q7Z2Y5	NRK_HUMAN			23	4222	+			1306			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3919A>G		.	.	.	.	.	.	.	.	.	.	A	13.34	2.206676	0.39003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04758	3.56;3.56	4.96	4.96	0.65561	Citron-like (2);	0.000000	0.49916	D	0.000135	T	0.04815	0.0130	L	0.36672	1.1	0.80722	D	1	B;P	0.42078	0.372;0.77	B;B	0.40782	0.053;0.34	T	0.38908	-0.9639	10	0.54805	T	0.06	.	5.4621	0.16622	0.8038:0.0:0.1962:0.0	.	974;1306	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	E	1306;1307	ENSP00000434830:K1306E;ENSP00000438378:K1307E	ENSP00000434830:K1306E	K	+	1	0	NRK	105070638	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.190000	0.50973	1.943000	0.56356	0.441000	0.28932	AAA		0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	55	0	0	0	1	0	4	55				
IGF2BP3	10643	broad.mit.edu	37	7	23458413	23458413	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:23458413C>T	ENST00000258729.3	-	3	623	c.267G>A	c.(265-267)ccG>ccA	p.P89P	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	89	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTAAATGAGGCGGGATATTTC	0.313																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(265-267)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 3							38.0	37.0	37.0					7																	23458413		2199	4293	6492	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23458413C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.267G>A	7.37:g.23458413C>T						IGF2BP3_ENST00000491719.1_5'UTR	p.P89P	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			3	623	-			89			RRM 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.267G>A	CCDS5382.1																																																																																				0.313	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		19	111	0	0	0	1	0	19	111				
FAT3	120114	broad.mit.edu	37	11	92538476	92538476	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:92538476C>T	ENST00000298047.6	+	10	9071	c.9054C>T	c.(9052-9054)agC>agT	p.S3018S	FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3018	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGAGCGTCAGTGATG	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9052-9054)agC>agT		FAT atypical cadherin 3							69.0	69.0	69.0					11																	92538476		1959	4168	6127	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92538476C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9054C>T	11.37:g.92538476C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.S3018S|FAT3_ENST00000525166.1_Silent_p.S2868S	p.S3018S			Q8TDW7	FAT3_HUMAN			10	9071	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3018			Cadherin 27.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9054C>T																																																																																					0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	101	0	0	0	1	0	10	101				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		6	294	0	0	0	1	0	6	294				
PRB3	5544	broad.mit.edu	37	12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	211	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							74.0	94.0	88.0					12																	11420551		1662	3708	5370	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420551C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.632G>A	12.37:g.11420551C>T	ENSP00000279573:p.Gly211Glu					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050200	0.07407	.	.	ENSG00000197870	ENST00000538488	T	0.08984	3.03	1.13	0.161	0.14977	.	2.415300	0.04566	N	0.392332	T	0.05823	0.0152	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.38779	-0.9645	9	0.39692	T	0.17	.	3.799	0.08751	0.0:0.5104:0.0:0.4895	.	211	Q04118	PRB3_HUMAN	E	190	ENSP00000442626:G190E	ENSP00000279573:G211E	G	-	2	0	PRB3	11311818	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.527000	0.06200	0.043000	0.15746	0.194000	0.17425	GGA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		7	910	0	0	0	1	0	7	910				
CDH17	1015	broad.mit.edu	37	8	95178163	95178163	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:95178163C>T	ENST00000027335.3	-	10	1232	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAGTATTTTCTTCATCCCTG	0.418																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1108-1110)Gaa>Aaa		cadherin 17, LI cadherin (liver-intestine)							89.0	89.0	89.0					8																	95178163		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95178163C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1108G>A	8.37:g.95178163C>T	ENSP00000027335:p.Glu370Lys					CDH17_ENST00000450165.2_Missense_Mutation_p.E370K|CDH17_ENST00000441892.2_Missense_Mutation_p.E156K	p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1232	-	Breast(36;4.65e-06)		370			Cadherin 4.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1108G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896470	0.17686	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.59502	0.26;4.6;0.26	5.89	0.741	0.18336	Cadherin (4);Cadherin-like (1);	0.629868	0.14169	N	0.336864	T	0.44138	0.1279	L	0.56124	1.755	0.39255	D	0.964112	B;B	0.28026	0.198;0.019	B;B	0.24269	0.05;0.052	T	0.22556	-1.0213	10	0.13470	T	0.59	-9.1691	7.0442	0.25037	0.0:0.5545:0.2333:0.2122	.	156;370	E7EN24;Q12864	.;CAD17_HUMAN	K	370;156;370	ENSP00000027335:E370K;ENSP00000392811:E156K;ENSP00000401468:E370K	ENSP00000027335:E370K	E	-	1	0	CDH17	95247339	0.655000	0.27376	0.866000	0.34008	0.051000	0.14879	0.052000	0.14163	0.391000	0.25143	0.561000	0.74099	GAA		0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		4	240	0	0	0	1	0	4	240				
ARSB	411	broad.mit.edu	37	5	78280984	78280984	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:78280984G>A	ENST00000264914.4	-	1	624	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	30					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		gccAACAACAGCAGCAGCAGC	0.751																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(88-90)Ctg>Ttg		arylsulfatase B							3.0	4.0	3.0					5																	78280984		1372	3025	4397	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78280984G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.88C>T	5.37:g.78280984G>A						ARSB_ENST00000396151.3_Silent_p.L30L|ARSB_ENST00000565165.1_Silent_p.L30L	p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	1	624	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	30					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.88C>T	CCDS4043.1																																																																																				0.751	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		3	35	0	0	0	1	0	3	35				
KCNB2	9312	broad.mit.edu	37	8	73848252	73848252	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:73848252C>T	ENST00000523207.1	+	3	1250	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	221					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCAGGAAACGGACGAATTT	0.473																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(661-663)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							196.0	177.0	184.0					8																	73848252		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848252C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.662C>T	8.37:g.73848252C>T	ENSP00000430846:p.Thr221Met						p.T221M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1250	+	Breast(64;0.137)		221					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.662C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037564	0.07497	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.93	-10.1	0.00402	.	1.616920	0.03742	N	0.255128	D	0.90027	0.6886	N	0.11756	0.17	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.81671	-0.0827	10	0.44086	T	0.13	.	7.1553	0.25635	0.2329:0.3187:0.0:0.4484	.	221	Q92953	KCNB2_HUMAN	M	221	ENSP00000430846:T221M	ENSP00000430846:T221M	T	+	2	0	KCNB2	74010806	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.989000	0.03736	-1.915000	0.01077	-0.274000	0.10170	ACG		0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		11	374	0	0	0	1	0	11	374				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000405486.1_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaA		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T						RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E	p.E390E			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1170G>A	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		4	213	0	0	0	1	0	4	213				
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A	rs551032620		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.0	False		,,,				2504	0.001					ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1951-1953)tcG>tcA		zinc finger protein 175							83.0	77.0	79.0					19																	52091537		2203	4300	6503	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091537G>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1953G>A	19.37:g.52091537G>A						ZNF175_ENST00000436511.2_Intron	p.S651S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2311	+		all_neural(266;0.0299)	651					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.1953G>A	CCDS12837.1																																																																																				0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		70	259	0	0	0	1	0	70	259				
FBXO47	494188	broad.mit.edu	37	17	37099973	37099973	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37099973C>T	ENST00000378079.2	-	8	1009	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	270										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTATCATTTCCTGCCAAACCA	0.388																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(808-810)caG>caA		F-box protein 47							118.0	113.0	115.0					17																	37099973		2203	4300	6503	SO:0001819	synonymous_variant	494188							g.chr17:37099973C>T		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.810G>A	17.37:g.37099973C>T							p.Q270Q	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			8	1009	-			270					B2RTZ4	Silent	SNP	ENST00000378079.2	37	c.810G>A	CCDS32639.1																																																																																				0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		89	342	0	0	0	1	0	89	342				
PRG4	10216	broad.mit.edu	37	1	186276240	186276240	+	Silent	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:186276240T>C	ENST00000445192.2	+	7	1434	c.1389T>C	c.(1387-1389)acT>acC	p.T463T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T420T|PRG4_ENST00000367485.4_Silent_p.T370T|PRG4_ENST00000367483.4_Silent_p.T422T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	463	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T463T(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.657																																						ENST00000445192.2																			3	Substitution - coding silent(3)	p.T463T(3)	endometrium(3)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1387-1389)acT>acC		proteoglycan 4							86.0	95.0	92.0					1																	186276240		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276240T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1389T>C	1.37:g.186276240T>C						PRG4_ENST00000367483.4_Silent_p.T422T|PRG4_ENST00000367486.3_Silent_p.T420T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T370T	p.T463T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1434	+			463			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1389T>C	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	501	0	0	0	1	0	11	501				
MUC17	140453	broad.mit.edu	37	7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	rs71286276		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1431T(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4291-4293)Gct>Act		mucin 17, cell surface associated							207.0	222.0	217.0					7																	100678988		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678988G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr						p.A1431T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4355	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1431			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4291G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	890	0	0	0	1	0	8	890				
GABRB3	2562	broad.mit.edu	37	15	26866539	26866539	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:26866539T>A	ENST00000311550.5	-	4	494	c.383A>T	c.(382-384)aAg>aTg	p.K128M	GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000541819.2_Missense_Mutation_p.K184M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	128					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACAAATGACTTTTTGTCATT	0.502																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(550-552)aAg>aTg		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						142.0	127.0	132.0					15																	26866539		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866539T>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.383A>T	15.37:g.26866539T>A	ENSP00000308725:p.Lys128Met					GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M|GABRB3_ENST00000311550.5_Missense_Mutation_p.K128M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M	p.K184M			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	653	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	128					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.551A>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063482	0.93898	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.77	5.77	0.91146	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.85542	2.76	0.80722	D	1	P;D;D	0.71674	0.717;0.998;0.998	P;D;D	0.70016	0.454;0.917;0.967	D	0.90410	0.4409	10	0.72032	D	0.01	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	184;128;128	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	128;184;128;57;43;43	ENSP00000308725:K128M;ENSP00000442408:K184M;ENSP00000299267:K128M;ENSP00000383049:K57M;ENSP00000439169:K43M;ENSP00000452272:K43M	ENSP00000299267:K128M	K	-	2	0	GABRB3	24417632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.880000	0.87243	2.218000	0.71995	0.378000	0.23410	AAG		0.502	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			130	334	0	0	0	1	0	130	334				
HMGCS2	3158	broad.mit.edu	37	1	120307007	120307007	+	Missense_Mutation	SNP	C	C	T	rs147906427		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:120307007C>T	ENST00000369406.3	-	2	396	c.347G>A	c.(346-348)cGc>cAc	p.R116H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R116H|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	116					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GAGCTGTATGCGCTCCATCAG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21152	0.0		0.0	False		,,,				2504	0.0					ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(346-348)cGc>cAc		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)		C	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	122.0	112.0	115.0		347,347	4.2	1.0	1	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HMGCS2	NM_001166107.1,NM_005518.3	29,29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging,possibly-damaging	116/467,116/509	120307007	4,13002	2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120307007C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.347G>A	1.37:g.120307007C>T	ENSP00000358414:p.Arg116His					HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R116H	p.R116H	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	2	396	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	116					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.347G>A	CCDS905.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.2	4.388299	0.82902	6.81E-4	1.16E-4	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.90004	-2.6;-2.52	5.13	4.22	0.49857	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.93262	0.7853	M	0.87097	2.86	0.54753	D	0.999981	D;D	0.89917	1.0;0.999	D;D	0.70935	0.96;0.971	D	0.94096	0.7357	10	0.66056	D	0.02	-0.313	12.9589	0.58447	0.0:0.9199:0.0:0.0801	.	116;116	B7Z8R3;P54868	.;HMCS2_HUMAN	H	116	ENSP00000358414:R116H;ENSP00000439495:R116H	ENSP00000358414:R116H	R	-	2	0	HMGCS2	120108530	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.990000	0.49401	1.297000	0.44761	0.650000	0.86243	CGC		0.547	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		5	464	0	0	0	1	0	5	464				
SLC6A7	6534	broad.mit.edu	37	5	149581925	149581925	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:149581925G>T	ENST00000230671.2	+	7	1245	c.874G>T	c.(874-876)Gct>Tct	p.A292S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	292					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GATTGAAGCTGCTCTTCAGAT	0.537																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(874-876)Gct>Tct		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						99.0	105.0	103.0					5																	149581925		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581925G>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.874G>T	5.37:g.149581925G>T	ENSP00000230671:p.Ala292Ser					SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1245	+		all_hematologic(541;0.224)	292					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.874G>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472933	0.84640	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76186	-1.0;-1.0	4.87	4.87	0.63330	.	0.048502	0.85682	D	0.000000	D	0.86197	0.5875	M	0.87617	2.895	0.58432	D	0.999999	P	0.48230	0.907	P	0.56514	0.8	D	0.88768	0.3262	10	0.72032	D	0.01	.	18.183	0.89785	0.0:0.0:1.0:0.0	.	292	Q99884	SC6A7_HUMAN	S	292	ENSP00000230671:A292S;ENSP00000428200:A292S	ENSP00000230671:A292S	A	+	1	0	SLC6A7	149562118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.856000	0.86956	2.505000	0.84491	0.561000	0.74099	GCT		0.537	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		6	435	1	0	1	1	1	6	435				
SPOCK3	50859	broad.mit.edu	37	4	167713399	167713399	+	Missense_Mutation	SNP	G	G	A	rs560446612		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:167713399G>A	ENST00000357154.3	-	8	777	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000510741.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	214					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AACCAGTCCCGCAATCTGTTT	0.393																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(640-642)Cgg>Tgg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							105.0	90.0	95.0					4																	167713399		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167713399G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.640C>T	4.37:g.167713399G>A	ENSP00000349677:p.Arg214Trp					SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000510741.1_Intron	p.R214W	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	8	777	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	214					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.640C>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668665	0.67814	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;D	0.88586	1.42;1.43;1.43;1.42;1.42;1.42;1.35;0.83;1.43;1.23;0.83;1.12;2.14;-2.4	5.33	3.57	0.40892	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.124274	0.51477	N	0.000082	D	0.93501	0.7926	M	0.82193	2.58	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.991;0.996;0.995;0.998;0.996;0.997;0.998	D	0.92483	0.5994	10	0.72032	D	0.01	-2.4622	8.3992	0.32574	0.0729:0.0:0.5389:0.3881	.	116;118;163;223;214;211;214	B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	W	214;211;211;214;214;214;94;116;211;163;116;118;211;93	ENSP00000349677:R214W;ENSP00000350153:R211W;ENSP00000425570:R211W;ENSP00000420920:R214W;ENSP00000423421:R214W;ENSP00000423606:R214W;ENSP00000444789:R94W;ENSP00000426318:R116W;ENSP00000425502:R211W;ENSP00000411344:R163W;ENSP00000445430:R116W;ENSP00000438142:R118W;ENSP00000426177:R211W;ENSP00000423176:R93W	ENSP00000349677:R214W	R	-	1	2	SPOCK3	167949974	0.995000	0.38212	0.833000	0.33012	0.952000	0.60782	1.388000	0.34442	0.714000	0.32081	0.563000	0.77884	CGG		0.393	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			74	239	0	0	0	1	0	74	239				
FRY	10129	broad.mit.edu	37	13	32759255	32759255	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:32759255A>G	ENST00000380250.3	+	26	3785	c.3289A>G	c.(3289-3291)Atg>Gtg	p.M1097V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1097						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTAGTGCAATGGTGGCCAA	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3289-3291)Atg>Gtg		furry homolog (Drosophila)							80.0	77.0	78.0					13																	32759255		1928	4121	6049	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759255A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3289A>G	13.37:g.32759255A>G	ENSP00000369600:p.Met1097Val						p.M1097V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3785	+		Lung SC(185;0.0271)	1097					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3289A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755504	0.49362	.	.	ENSG00000073910	ENST00000380250	T	0.22134	1.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.36672	1.1	0.80722	D	1	B	0.29716	0.255	B	0.26969	0.075	T	0.04242	-1.0966	10	0.24483	T	0.36	.	15.6626	0.77199	1.0:0.0:0.0:0.0	.	1097	Q5TBA9	FRY_HUMAN	V	1097	ENSP00000369600:M1097V	ENSP00000369600:M1097V	M	+	1	0	FRY	31657255	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.191000	0.77763	2.161000	0.67846	0.528000	0.53228	ATG		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		81	322	0	0	0	1	0	81	322				
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.R598H(2)	ovary(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1792-1794)cGt>cAt		paternally expressed 3							106.0	83.0	91.0					19																	57328017		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328017C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1793G>A	19.37:g.57328017C>T	ENSP00000326581:p.Arg598His					PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.R598H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2156	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	598					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1793G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	211	0	0	0	1	0	5	211				
LRRC27	80313	broad.mit.edu	37	10	134155718	134155718	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:134155718C>T	ENST00000368614.3	+	4	448	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000368613.4_Splice_Site_p.H115Y|LRRC27_ENST00000392638.2_Splice_Site_p.H115Y|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAAAGGCATTTGAAAAC	0.264																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.e4-1		leucine rich repeat containing 27							23.0	23.0	23.0					10																	134155718		2171	4266	6437	SO:0001630	splice_region_variant	80313							g.chr10:134155718C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.342-1C>T	10.37:g.134155718C>T						LRRC27_ENST00000368614.3_Splice_Site_p.H115_splice|LRRC27_ENST00000368613.4_Splice_Site_p.H115_splice|LRRC27_ENST00000368612.1_Splice_Site_p.H53_splice|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000344079.5_Splice_Site_p.H115_splice|LRRC27_ENST00000368615.3_Splice_Site_p.H115_splice|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000368610.3_Splice_Site_p.H53_splice	p.H115_splice			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	4	538	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	115					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Splice_Site	SNP	ENST00000368614.3	37	c.341_splice	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848731	0.32699	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.76	2.75	0.32379	.	0.153086	0.30999	N	0.008452	T	0.41050	0.1142	L	0.39326	1.205	0.80722	D	1	B;B;B;B	0.32350	0.113;0.166;0.263;0.366	B;B;B;B	0.27796	0.031;0.063;0.052;0.083	T	0.32025	-0.9922	10	0.44086	T	0.13	-13.2043	5.8781	0.18840	0.0:0.7451:0.0:0.2549	.	115;53;115;115	Q9C0I9-4;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;LRC27_HUMAN;.	Y	115;115;115;115;115;53;53	ENSP00000357604:H115Y;ENSP00000376413:H115Y;ENSP00000342641:H115Y;ENSP00000357603:H115Y;ENSP00000357602:H115Y;ENSP00000357601:H53Y;ENSP00000357599:H53Y	ENSP00000342641:H115Y	H	+	1	0	LRRC27	134005708	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.824000	0.27379	1.177000	0.42855	0.655000	0.94253	CAT		0.264	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462	Missense_Mutation	22	66	0	0	0	1	0	22	66				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		9	310						9	310	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39788668	39788670	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:39788668_39788670delGGA	ENST00000372915.3	+	32	4326_4328	c.4239_4241delGGA	c.(4237-4242)ctggag>ctg	p.E1417del	MACF1_ENST00000545844.1_In_Frame_Del_p.E1417del|MACF1_ENST00000317713.7_In_Frame_Del_p.E1417del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_In_Frame_Del_p.E1417del|MACF1_ENST00000539005.1_In_Frame_Del_p.E1417del|MACF1_ENST00000567887.1_In_Frame_Del_p.E1449del|MACF1_ENST00000564288.1_In_Frame_Del_p.E1412del			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1417	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCGGCGTCTGGAGGAGGAGGAG	0.493																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4222-4227)ctg>ct		microtubule-actin crosslinking factor 1																																				SO:0001651	inframe_deletion	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39788668_39788670delGGA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4239_4241delGGA	1.37:g.39788677_39788679delGGA	ENSP00000362006:p.Glu1417del					MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del|MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del	p.LE1408del			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		33	5001_5003	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1413					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Del	DEL	ENST00000372915.3	37	c.4224_4226delGGA																																																																																					0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	579						7	579	---	---	---	---
LRRC53	100144878	broad.mit.edu	37	1	74957824	74957826	+	Intron	DEL	CTT	CTT	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	901						7	901	---	---	---	---
SPATA1	100505741	broad.mit.edu	37	1	84988200	84988201	+	RNA	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:84988200_84988201insT	ENST00000370638.2	+	0	526							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GGTAAGTTTTCTTTTTTTTTCT	0.327																																						ENST00000370638.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10								spermatogenesis associated 1				11,4253		0,11,2121						1.0	0.1			48	15,8237		0,15,4111	no	intron	SPATA1	XM_003118960.2		0,26,6232	A1A1,A1R,RR		0.1818,0.258,0.2077				26,12490						100505741							g.chr1:84988200_84988201insT	AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84988209_84988209dupT													Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)	0	526	+								A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	INS	ENST00000370638.2	37																																																																																						0.327	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354		7	176						7	176	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.S47fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(139-141)taafs		lysophosphatidic acid receptor 3																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331664_85331665insA	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.140dupT	1.37:g.85331673_85331673dupA	ENSP00000395389:p.Ser47fs					LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR	p.*47fs			Q9UBY5	LPAR3_HUMAN			1	177_178	-			47					A0AVA3	Frame_Shift_Ins	INS	ENST00000440886.1	37	c.139_140insT	CCDS700.1																																																																																				0.401	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		12	607						12	607	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		8	483						8	483	---	---	---	---
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-	rs142696332		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(694-696)gfs		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)																																			SO:0001589	frameshift_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828721_115828722delCA		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.695_696delTG	1.37:g.115828731_115828732delCA	ENSP00000358525:p.Val232fs					RP4-663N10.1_ENST00000425449.1_RNA	p.V232fs	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	863_864	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	232					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Frame_Shift_Del	DEL	ENST00000369512.2	37	c.695_696delTG	CCDS882.1																																																																																				0.579	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		7	412						7	412	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		9	437						9	437	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(367-369)ccafs		nuclear receptor subfamily 1, group I, member 3																																				SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs	p.P123fs			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	661_662	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			8	1225						8	1225	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			8	376						8	376	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		10	340						10	340	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		11	976						11	976	---	---	---	---
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgtfs	p.C108fs																								CTTATTACTGTCAACAGAGTG	0.512																																						ENST00000603238.1																			0											c.(322-324)tgfs																																						SO:0001589	frameshift_variant	0							g.chr2:90458648delT																												ENST00000603238.1:c.324delT	2.37:g.90458648delT	ENSP00000474044:p.Cys108fs						p.108fs							2	324	+									Frame_Shift_Del	DEL	ENST00000603238.1	37	c.324delT																																																																																					0.512	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			7	2869						7	2869	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		7	385						7	385	---	---	---	---
LIPT1	51601	broad.mit.edu	37	2	99778781	99778781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99778781delA	ENST00000393473.2	+	3	585	c.361delA	c.(361-363)aaafs	p.K123fs	LIPT1_ENST00000393477.3_Frame_Shift_Del_p.K123fs|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	123	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTTACAACCAAAAAAAAGTA	0.388																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(361-363)aafs		lipoyltransferase 1	Lipoic Acid(DB00166)						47.0	46.0	46.0					2																	99778781		2203	4300	6503	SO:0001589	frameshift_variant	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778781delA	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.361delA	2.37:g.99778781delA	ENSP00000377115:p.Lys123fs					MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs	p.K123fs	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN			4	713	+			123					Q4ZFZ1	Frame_Shift_Del	DEL	ENST00000393473.2	37	c.361delA	CCDS2039.1																																																																																				0.388	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		17	285						17	285	---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	384						7	384	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638648	102638649	+	Splice_Site	INS	-	-	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.e6-1		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site		NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	917_918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37		CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	8	1043						8	1043	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			8	647						8	647	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201438010	201438030	+	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-	rs192793098|rs375817690|rs535907885	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENST00000357799.4	+	7	3039_3059	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	c.(2941-2961)aaagtagttaaaaaacgtaagdel	p.KVVKKRK981del		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	981					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.V982E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGATTCCTACAAAGTAGTTAAAAAACGTAAGAAAGAATCAT	0.308																																						ENST00000357799.4																			1	Substitution - Missense(1)	p.V982E(1)	large_intestine(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2941-2961)del		shugoshin-like 2 (S. pombe)																																				SO:0001651	inframe_deletion	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2941_2961delAAAGTAGTTAAAAAACGTAAG	2.37:g.201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENSP00000350447:p.Lys981_Lys987del						p.KVVKKRK981del	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3039_3059	+			981					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	In_Frame_Del	DEL	ENST00000357799.4	37	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	CCDS42796.1																																																																																				0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		13	301						13	301	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220496782	220496783	+	Frame_Shift_Ins	INS	-	-	C	rs34369613		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:220496782_220496783insC	ENST00000358055.3	+	7	1416_1417	c.904_905insC	c.(904-906)gccfs	p.A302fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A302fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A329fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A302fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A329fs|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	302					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGCCTGGCCCCCATCCTT	0.634																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(904-906)cccfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496782_220496783insC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.909dupC	2.37:g.220496787_220496787dupC	ENSP00000350756:p.Ala302fs					SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.P329fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.P329fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.P302fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.P302fs	p.P302fs			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1416_1417	+		Renal(207;0.0183)	302					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.904_905insC	CCDS2445.1																																																																																				0.634	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		15	302						15	302	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3004-3006)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del					GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.AT824del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del	p.Q1006del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	25	3201_3203	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3004_3006delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	245						7	245	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7621013	7621013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:7621013delT	ENST00000357716.4	+	8	2694	c.2420delT	c.(2419-2421)attfs	p.I807fs	GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000486284.1_Frame_Shift_Del_p.I807fs	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCATTCCAATTTTTTTTGGC	0.383																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2419-2421)atfs		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						40.0	38.0	38.0					3																	7621013		2203	4300	6503	SO:0001589	frameshift_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7621013delT	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2420delT	3.37:g.7621013delT	ENSP00000350348:p.Ile807fs					GRM7_ENST00000357716.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs	p.I807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2694	+			807					Q8NFS2|Q8NFS3|Q8NFS4	Frame_Shift_Del	DEL	ENST00000357716.4	37	c.2420delT	CCDS43042.1																																																																																				0.383	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		7	183						7	183	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	295						8	295	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:108682418_108682419insT	ENST00000483760.1	-	26	2621_2622	c.2578_2579insA	c.(2578-2580)atafs	p.I860fs	MORC1_ENST00000232603.5_Frame_Shift_Ins_p.I881fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2641-2643)aaafs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682418_108682419insT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2579dupA	3.37:g.108682427_108682427dupT	ENSP00000417282:p.Ile860fs					MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	p.K881fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			27	2723_2724	-			881						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.2641_2642insA																																																																																					0.287	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			8	249						8	249	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149769296	149769296	+	5'Flank	DEL	C	C	-	rs59377959|rs367768558|rs537947799	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:149769296delC	ENST00000497148.1	-	0	0				RP11-167H9.4_ENST00000487840.1_RNA			P35080	PROF2_HUMAN	profilin 2						actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCCTGGTGTCtttttttttt	0.463																																						ENST00000487840.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:149769296delC	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683		3.37:g.149769296delC	Exception_encountered													0	46	+								B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	RNA	DEL	ENST00000497148.1	37																																																																																						0.463	PFN2-018	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000357104.1	NM_002628		7	165						7	165	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		9	357						9	357	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(100-102)aafs		lipoic acid synthetase	Lipoic Acid(DB00166)						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462464delA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered					LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs	p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	218	+			36						Frame_Shift_Del	DEL	ENST00000449470.2	37	c.100delA	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			10	728						10	728	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:69202891_69202893delTCC	ENST00000344157.4	-	4	1070_1072	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_ENST00000579690.1_In_Frame_Del_p.245_246EE>E|YTHDC1_ENST00000355665.3_In_Frame_Del_p.245_246EE>E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	245	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E245E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473																																						ENST00000344157.4																			1	Substitution - coding silent(1)	p.E245E(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(733-738)gaa>ga		YTH domain containing 1																																				SO:0001651	inframe_deletion	91746							g.chr4:69202891_69202893delTCC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.735_737delGGA	4.37:g.69202900_69202902delTCC	ENSP00000339245:p.Glu249del					YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del	p.EE247del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1070_1072	-			247			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	In_Frame_Del	DEL	ENST00000344157.4	37	c.735_737delGGA	CCDS33992.1																																																																																				0.473	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		7	190						7	190	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	425						7	425	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:128564917delA	ENST00000335251.6	+	2	491	c.388delA	c.(388-390)aaafs	p.K131fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	131					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(388-390)aafs		inturned planar cell polarity protein							63.0	66.0	65.0					4																	128564917		2203	4300	6503	SO:0001589	frameshift_variant	27152							g.chr4:128564917delA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.388delA	4.37:g.128564917delA	ENSP00000334003:p.Lys131fs					INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			2	491	+			131					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Del	DEL	ENST00000335251.6	37	c.388delA	CCDS34061.1																																																																																				0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		8	386						8	386	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	414						8	414	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		12	619						12	619	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	226						7	226	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:52402940delG	ENST00000396954.3	-	3	742	c.65delC	c.(64-66)ccafs	p.P22fs	CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000527216.1_Frame_Shift_Del_p.P79fs|MOCS2_ENST00000508922.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000510818.2_Frame_Shift_Del_p.P84fs|CTD-2366F13.1_ENST00000512301.1_RNA|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000582677.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000450852.3_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000584946.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000361377.4_Frame_Shift_Del_p.P84fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CTCCACTAATGGGGGGGATAA	0.423																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(250-252)ccfs		molybdenum cofactor synthesis 2							95.0	84.0	87.0					5																	52402940		2203	4300	6503	SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402940delG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.65delC	5.37:g.52402940delG	ENSP00000380157:p.Pro22fs					MOCS2_ENST00000510818.2_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000508922.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000396954.3_Frame_Shift_Del_p.P22fs|MOCS2_ENST00000584946.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000582677.1_Frame_Shift_Del_p.P84fs|MOCS2_ENST00000450852.3_Frame_Shift_Del_p.P84fs	p.P84fs			O96033	MOC2A_HUMAN			3	293	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	84						Frame_Shift_Del	DEL	ENST00000396954.3	37	c.252delC	CCDS3958.1																																																																																				0.423	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		7	325						7	325	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)aggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTAAGATCCTTTTTTTCCTT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4387-4389)ggfs		pleckstrin homology domain interacting protein							150.0	155.0	153.0					6																	79655961		2203	4300	6503	SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655961delT	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4387delA	6.37:g.79655961delT	ENSP00000275034:p.Arg1463fs					PHIP_ENST00000479165.1_5'UTR	p.R1463fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1463					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000275034.4	37	c.4387delA	CCDS4987.1																																																																																				0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	503						7	503	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	361						12	361	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		7	1056						7	1056	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		9	426						9	426	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T	rs556745507	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		CGTTCTACCAgtttttttttgt	0.441													|||unknown(NO_COVERAGE)	44	0.00878594	0.0325	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72683455_72683456insT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683464_72683464dupT								NR_002164.1						0	120	-									RNA	INS	ENST00000425256.1	37																																																																																						0.441	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		14	453						14	453	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	227						7	227	---	---	---	---
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139102397	139102408	+	In_Frame_Del	DEL	GCAGCCGTAGCC	GCAGCCGTAGCC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:139102397_139102408delGCAGCCGTAGCC	ENST00000354926.4	+	9	1277_1288	c.923_934delGCAGCCGTAGCC	c.(922-936)agcagccgtagccgc>agc	p.SRSR309del	C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SRSR306del|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SRSR308del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SRSR375del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TCCCGCTCCAGCAGCCGTAGCCGCAGCCGTAG	0.547																																						ENST00000354926.4																			0											c.(922-936)agc>a																																						SO:0001651	inframe_deletion	0							g.chr7:139102397_139102408delGCAGCCGTAGCC		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.923_934delGCAGCCGTAGCC	7.37:g.139102397_139102408delGCAGCCGTAGCC	ENSP00000347005:p.Ser309_Arg312del					C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SSRSR305del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SSRSR307del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SSRSR374del	p.SSRSR308del	NM_016019.3	NP_057103.2					9	1277_1288	+									In_Frame_Del	DEL	ENST00000354926.4	37	c.923_934delGCAGCCGTAGCC	CCDS43656.1																																																																																				0.547	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			12	257						12	257	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		13	235						13	235	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		9	269						9	269	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-	rs587750077|rs376315825	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACCCACATTTCTACTTTCTTTAT	0.517																																						ENST00000603901.1																			0																																																			0							g.chr7:142481743_142481745delCTA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481743_142481745delCTA								NR_001296.3						0	454	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.517	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		12	352						12	352	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	79						8	79	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-	rs540622203	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552														5	0.000998403	0.0015	0.0	5008	,	,		18692	0.002		0.0	False		,,,				2504	0.001					ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(778-780)del		nucleolar protein with MIF4G domain 1																																				SO:0001651	inframe_deletion	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743209_156743211delGAG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.778_780delGAG	7.37:g.156743218_156743220delGAG	ENSP00000275820:p.Glu264del						p.E264del	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	793_795	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	264			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	c.778_780delGAG	CCDS34787.1																																																																																				0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		7	187						7	187	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		5	10						5	10	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaagaafs	p.E2121fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E2115fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6358-6363)aaaaggfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289348_103289349insT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6361dupA	8.37:g.103289356_103289356dupT	ENSP00000429084:p.Glu2121fs					UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	p.R2121fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966_6967	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2121					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.6360_6361insA	CCDS34933.1																																																																																				0.381	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	677						8	677	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	304						8	304	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		12	109						12	109	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(19-21)tcafs		relaxin 2			,	5,4259		0,5,2127					,	0.2	0.1			64	20,8234		0,20,4107	no	frameshift,frameshift	RLN2	NM_134441.1,NM_005059.2	,	0,25,6234	A1A1,A1R,RR		0.2423,0.1173,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304560_5304561insA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.21dupT	9.37:g.5304568_5304568dupA	ENSP00000371040:p.Phe7fs					RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	408_409	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	7					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Ins	INS	ENST00000381627.3	37	c.20_21insT	CCDS6460.1																																																																																				0.535	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		8	507						8	507	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971095	21971096	+	Frame_Shift_Ins	INS	-	-	CC	rs121913384		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:21971095_21971096insCC	ENST00000304494.5	-	2	532_533	c.262_263insGG	c.(262-264)gagfs	p.E88fs	CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.E37fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G143fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E37fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGAAGCCCTCCCGGGCAGCG	0.757	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1391	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|liver(10)|autonomic_ganglia(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(304-306)gggfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971095_21971096insCC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.261_262dupGG	9.37:g.21971096_21971097dupCC	ENSP00000307101:p.Glu88fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G102fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G143fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G37fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.G88fs	p.G102fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	597_598	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.305_306insGG	CCDS6510.1																																																																																				0.757	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	55						18	55	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)aagdel	p.K285del	DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(841-843)del		DAB2 interacting protein																																				SO:0001651	inframe_deletion	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522389_124522391delAAG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.841_843delAAG	9.37:g.124522398_124522400delAAG	ENSP00000386183:p.Lys285del					DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del	p.K285del			Q5VWQ8	DAB2P_HUMAN			6	1023_1025	+			285			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	In_Frame_Del	DEL	ENST00000408936.3	37	c.841_843delAAG																																																																																					0.601	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		8	321						8	321	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	35						7	35	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																						ENST00000409012.4																			1	Deletion - In frame(1)	p.E315delE(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1840-1845)gaa>ga		taperin																																				SO:0001651	inframe_deletion	286262				sensory perception of sound	stereocilium		g.chr9:140087025_140087027delTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del					TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	p.EE620del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			2	1928_1930	-			620			Glu-rich.		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	ENST00000409012.4	37	c.1842_1844delGGA	CCDS56594.1																																																																																				0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		8	101						8	101	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		8	455						8	455	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	1171						11	1171	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(310-312)del		olfactory receptor, family 10, subfamily A, member 5																																				SO:0001651	inframe_deletion	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867223_6867225delTTC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.310_312delTTC	11.37:g.6867232_6867234delTTC	ENSP00000299454:p.Phe108del					OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del	p.F108del			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	341_343	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108					O95223|Q52M66|Q96R21|Q96R22	In_Frame_Del	DEL	ENST00000299454.4	37	c.310_312delTTC	CCDS7773.1																																																																																				0.517	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		7	528						7	528	---	---	---	---
PRDX5	25824	broad.mit.edu	37	11	64088369	64088370	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:64088369_64088370insG	ENST00000265462.4	+	4	599_600	c.471_472insG	c.(472-474)gggfs	p.G158fs	PRDX5_ENST00000352435.4_Frame_Shift_Ins_p.G114fs|PRDX5_ENST00000347941.4_Frame_Shift_Ins_p.G69fs|TRMT112_ENST00000544844.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	158	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CTGGGGCCTTTGGGAAGGTGAG	0.574																																						ENST00000265462.4																			0				breast(1)|kidney(1)|lung(1)|skin(1)	4						c.(469-474)ttggaafs		peroxiredoxin 5	Auranofin(DB00995)																																			SO:0001589	frameshift_variant	25824				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity	g.chr11:64088369_64088370insG	AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.474dupG	11.37:g.64088372_64088372dupG	ENSP00000265462:p.Gly158fs					PRDX5_ENST00000347941.4_Frame_Shift_Ins_p.E69fs|PRDX5_ENST00000352435.4_Frame_Shift_Ins_p.E114fs	p.E158fs	NM_012094.4	NP_036226.1	P30044	PRDX5_HUMAN			4	599_600	+			158			Thioredoxin.		A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Frame_Shift_Ins	INS	ENST00000265462.4	37	c.471_472insG	CCDS8069.1																																																																																				0.574	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		9	933						9	933	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85623735	85623737	+	Intron	DEL	CTG	CTG	-	rs192533193		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:85623735_85623737delCTG	ENST00000342404.3	+	8	1010				CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_In_Frame_Del_p.L283del|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCCTCGTCATCTGCTGCTGCTGC	0.512																																						ENST00000280245.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(838-840)del		coiled-coil domain containing 83																																				SO:0001627	intron_variant	220047							g.chr11:85623735_85623737delCTG	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.794+1290CTG>-	11.37:g.85623744_85623746delCTG						CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Intron	p.L283del	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN			9	1350_1352	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	265					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	In_Frame_Del	DEL	ENST00000342404.3	37	c.838_840delCTG																																																																																					0.512	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		7	949						7	949	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	9	589						9	589	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	416953	416953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:416953delT	ENST00000399788.2	-	23	3959	c.3597delA	c.(3595-3597)aaafs	p.K1199fs	KDM5A_ENST00000382815.4_Frame_Shift_Del_p.K1199fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1199					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGCTGGATCCTTTTTTTTGGG	0.478			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3595-3597)aafs		lysine (K)-specific demethylase 5A							107.0	104.0	105.0					12																	416953		1897	4119	6016	SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416953delT		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3597delA	12.37:g.416953delT	ENSP00000382688:p.Lys1199fs					KDM5A_ENST00000382815.4_Frame_Shift_Del_p.K1199fs	p.K1199fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3959	-			1199					A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Del	DEL	ENST00000399788.2	37	c.3597delA	CCDS41736.1																																																																																				0.478	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		12	530						12	530	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:56559113delG	ENST00000267064.4	-	26	3214	c.3128delC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)ctfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			,,	47,38,3933		0,0,47,2,34,1926	35.0	41.0	39.0		,,	4.5	1.0	12		38	49,80,7671		2,0,45,9,62,3782	no	codingComplex,codingComplex,codingComplex	SMARCC2	NM_139067.2,NM_003075.3,NM_001130420.1	,,	2,0,92,11,96,5708	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6538,2.1155,1.8108	,,	,,	56559113	96,118,11604	2116	4167	6283	SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559113delG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3128delC	12.37:g.56559113delG	ENSP00000267064:p.Pro1043fs					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs	p.P1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	c.3221delC	CCDS8907.1																																																																																				0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			10	683						10	683	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:88524078_88524079insT	ENST00000552810.1	-	9	978_979	c.635_636insA	c.(634-636)aacfs	p.N212fs	CEP290_ENST00000397838.3_5'Flank|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.N212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(634-636)atafs		centrosomal protein 290kDa				0,3518		0,0,1759						2.2	1.0			194	1,7805		0,1,3902	no	frameshift	CEP290	NM_025114.3		0,1,5661	A1A1,A1R,RR		0.0128,0.0,0.0088				1,11323				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88524078_88524079insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.636dupA	12.37:g.88524086_88524086dupT	ENSP00000448012:p.Asn212fs					CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs	p.I212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			9	978_979	-			212					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.635_636insA	CCDS55858.1																																																																																				0.317	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		7	682						7	682	---	---	---	---
TRAV12-3	28672	broad.mit.edu	37	14	22433684	22433684	+	RNA	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:22433684delT	ENST00000390442.3	+	0	5									T cell receptor alpha variable 12-3																		TTTGTTATTATTTTTTTTTCG	0.353																																						ENST00000390442.3																			0																	15,18,3471		0,0,15,3,12,1722	101.0	91.0	94.0			-7.1	0.0	14		93	12,36,7756		0,0,12,5,26,3859	no	intergenic				0,0,27,8,38,5581	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6151,0.9418,0.7163			22433684	27,54,11227	692	1591	2283			0							g.chr14:22433684delT	X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22433684delT														0	5	+									RNA	DEL	ENST00000390442.3	37																																																																																						0.353	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409888.1	NG_001332		8	88						8	88	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:75514603_75514604insT	ENST00000556740.1	-	1	1790_1791	c.1755_1756insA	c.(1753-1758)aaagaafs	p.E586fs	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000355774.2_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.E586fs			Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)																														ENST00000355774.2																			3	Deletion - In frame(2)|Substitution - Nonsense(1)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)	breast(2)|large_intestine(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1753-1758)aaaatcfs	Mismatch excision repair (MMR)	mutL homolog 3																																				SO:0001589	frameshift_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514603_75514604insT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1756dupA	14.37:g.75514612_75514612dupT	ENSP00000452316:p.Glu586fs					MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs	p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1970_1971	-			586					P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	c.1755_1756insA	CCDS32123.1																																																																																				0.356	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		7	449						7	449	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432|rs367875175	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		ATATGGTACTACCACTACTACTA	0.522																																						ENST00000390601.2																			0																																																			0							g.chr14:106573362_106573364delACC	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573362_106573364delACC														0	339_341	-									RNA	DEL	ENST00000390601.2	37																																																																																						0.522	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		11	899						11	899	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2058)tgttttfs	p.CF685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2053-2055)tttfs		spermatogenesis associated 5-like 1																																				SO:0001589	frameshift_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45710840_45710841insT	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2062dupT	15.37:g.45710848_45710848dupT	ENSP00000305494:p.Cys685fs					SPATA5L1_ENST00000533841.1_3'UTR	p.F685fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	7	2153_2154	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	685					C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	ENST00000305560.6	37	c.2054_2055insT	CCDS10123.1																																																																																				0.361	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		9	397						9	397	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65621765	65621765	+	Frame_Shift_Del	DEL	G	G	-	rs145360224	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:65621765delG	ENST00000327987.4	-	13	2419	c.2168delC	c.(2167-2169)ccgfs	p.P723fs	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	723					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCGCTGGCCGGGGGGAACAG	0.632																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2167-2169)cgfs		immunoglobulin superfamily, DCC subclass, member 3							71.0	86.0	81.0					15																	65621765		2198	4285	6483	SO:0001589	frameshift_variant	9543							g.chr15:65621765delG	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2168delC	15.37:g.65621765delG	ENSP00000332773:p.Pro723fs						p.P723fs	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			13	2419	-			723					O95215	Frame_Shift_Del	DEL	ENST00000327987.4	37	c.2168delC	CCDS10205.1																																																																																				0.632	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		10	883						10	883	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4162-4167)ataaaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5232_5233	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		11	493						11	493	---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	677518	677518	+	Frame_Shift_Del	DEL	G	G	-	rs370444305		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:677518delG	ENST00000248139.3	+	6	945	c.742delG	c.(742-744)gggfs	p.G251fs	RAB40C_ENST00000539661.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000535977.1_Frame_Shift_Del_p.G251fs	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	251					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CAGCGGGGCCGGGGGCGGCGG	0.647																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(742-744)ggfs		RAB40C, member RAS oncogene family							90.0	85.0	87.0					16																	677518		2201	4299	6500	SO:0001589	frameshift_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677518delG	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.742delG	16.37:g.677518delG	ENSP00000248139:p.Gly251fs					RAB40C_ENST00000539661.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.G251fs|RAB40C_ENST00000248139.3_Frame_Shift_Del_p.G251fs	p.G251fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	964	+		Hepatocellular(780;0.0218)	251					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Frame_Shift_Del	DEL	ENST00000248139.3	37	c.742delG	CCDS10413.1																																																																																				0.647	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		7	571						7	571	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		10	1107						10	1107	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		11	1581						11	1581	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	lincRNA	INS	-	-	C	rs112857933		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495																																						ENST00000569859.1																			0																																																			0							g.chr16:32823636_32823637insC																													16.37:g.32823636_32823637insC														0	373	+									RNA	INS	ENST00000569859.1	37																																																																																						0.495	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			9	127						9	127	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	438						7	438	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	132						7	132	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:26966334delT	ENST00000528896.2	-	11	1302	c.1228delA	c.(1228-1230)aga>ga	p.R410fs	KIAA0100_ENST00000544884.1_Splice_Site_p.R267fs|KIAA0100_ENST00000389003.3_Splice_Site_p.R267fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	410						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGACTGACCTTTTTTTCCTT	0.438																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.e11+1		KIAA0100							112.0	119.0	117.0					17																	26966334		2203	4300	6503	SO:0001630	splice_region_variant	9703					extracellular region		g.chr17:26966334delT	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1229+1A>-	17.37:g.26966334delT						KIAA0100_ENST00000544884.1_Splice_Site_p.R267_splice|KIAA0100_ENST00000389003.3_Splice_Site_p.R267_splice	p.R410_splice	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			11	1302	-	Lung NSC(42;0.00431)		410					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Splice_Site	DEL	ENST00000528896.2	37	c.1229_splice	CCDS32595.1																																																																																				0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	Frame_Shift_Del	7	392						7	392	---	---	---	---
YWHAEP7	284100	broad.mit.edu	37	17	36214141	36214141	+	RNA	DEL	A	A	-	rs76035088		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:36214141delA	ENST00000590732.1	-	0	325					NR_024178.1																						CAGCaaaattaaaaaaaaaaa	0.328																																						ENST00000590732.1																			0																																																			0							g.chr17:36214141delA																													17.37:g.36214141delA								NR_024178.1						0	325	-									RNA	DEL	ENST00000590732.1	37																																																																																						0.328	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			7	72						7	72	---	---	---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704																																						ENST00000293330.1																			1	Deletion - In frame(1)	p.L22delL(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)	2						c.(64-69)ccg>c		hypocretin (orexin) neuropeptide precursor																																				SO:0001651	inframe_deletion	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336501_40336503delGCA	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.65_67delTGC	17.37:g.40336510_40336512delGCA	ENSP00000293330:p.Leu22del						p.LP22del	NM_001524.1	NP_001515.1	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	151_153	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	22						In_Frame_Del	DEL	ENST00000293330.1	37	c.65_67delTGC	CCDS11421.1																																																																																				0.704	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1	NM_001524		7	51						7	51	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			21	196						21	196	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65899951	65899951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:65899951delA	ENST00000321892.4	+	10	3029	c.2968delA	c.(2968-2970)aaafs	p.K992fs	BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	992					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ggagaaagtcaaaaaaaaaga	0.338																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2968-2970)aafs		bromodomain PHD finger transcription factor							59.0	63.0	62.0					17																	65899951		2203	4300	6503	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65899951delA	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2968delA	17.37:g.65899951delA	ENSP00000315454:p.Lys992fs					BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs	p.K992fs			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	3029	+	all_cancers(12;6e-11)		992					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.2968delA																																																																																					0.338	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	230						7	230	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			7	357						7	357	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7034490	7034491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:7034490_7034491insT	ENST00000389658.3	-	14	2131_2132	c.2038_2039insA	c.(2038-2040)atgfs	p.M680fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	680	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTAAAGAGCCATTTTTGCAGAA	0.361																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2038-2040)ggcfs		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034490_7034491insT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2039dupA	18.37:g.7034495_7034495dupT	ENSP00000374309:p.Met680fs						p.G680fs	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	2131_2132	-		Colorectal(10;0.172)	680			Laminin IV type A 1.			Frame_Shift_Ins	INS	ENST00000389658.3	37	c.2038_2039insA	CCDS32787.1																																																																																				0.361	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		8	203						8	203	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		10	4						10	4	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T	rs553350987		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	GRCh37	CI992039	LMAN1	I		c.(910-915)aaaggafs		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)			1,4263		0,1,2131						5.7	1.0			139	0,8254		0,0,4127	no	frameshift	LMAN1	NM_005570.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013193_57013194insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.913dupA	18.37:g.57013202_57013202dupT	ENSP00000251047:p.Glu305fs						p.G305fs	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1629_1630	-		Colorectal(73;0.0946)	305					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Ins	INS	ENST00000251047.5	37	c.912_913insA	CCDS11974.1																																																																																				0.455	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		9	262						9	262	---	---	---	---
ZADH2	284273	broad.mit.edu	37	18	72913980	72913980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:72913980delT	ENST00000322342.3	-	2	814	c.525delA	c.(523-525)aaafs	p.K175fs	ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	175						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TCACCAAAACTTTTTTCCCTT	0.517																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(523-525)aafs		zinc binding alcohol dehydrogenase domain containing 2							269.0	285.0	280.0					18																	72913980		2203	4300	6503	SO:0001589	frameshift_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913980delT	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.525delA	18.37:g.72913980delT	ENSP00000323678:p.Lys175fs					ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	p.K175fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	814	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	175					A8KA15|B4DZ91	Frame_Shift_Del	DEL	ENST00000322342.3	37	c.525delA	CCDS12008.1																																																																																				0.517	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		9	1641						9	1641	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1221313	1221314	+	Frame_Shift_Ins	INS	-	-	C	rs121913321|rs373021819		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:1221313_1221314insC	ENST00000326873.7	+	6	2009_2010	c.836_837insC	c.(835-840)ggccccfs	p.GP279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGACTGTGGCCCCCCGCTCT	0.604		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		26	Whole gene deletion(20)|Deletion - Frameshift(3)|Unknown(2)|Substitution - Missense(1)	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1)	cervix(14)|lung(7)|large_intestine(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(835-837)gccfs		serine/threonine kinase 11																																				SO:0001589	frameshift_variant	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221313_1221314insC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.842dupC	19.37:g.1221319_1221319dupC	ENSP00000324856:p.Gly279fs	TSP Lung(3;<1E-08)					p.A279fs	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	2009_2010	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	279			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Ins	INS	ENST00000326873.7	37	c.836_837insC	CCDS45896.1																																																																																				0.604	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		25	41						25	41	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	271						7	271	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:38948159_38948160delTG	ENST00000359596.3	+	17	1814_1815	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000355481.4_Frame_Shift_Del_p.L605fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATGCTCCCTGTGTGTGTGTA	0.53																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1813-1815)cfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948159_38948160delTG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1814_1815delTG	19.37:g.38948167_38948168delTG	ENSP00000352608:p.Leu605fs					RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		17	1945_1946	+	all_cancers(60;7.91e-06)		605			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.1814_1815delTG	CCDS33011.1																																																																																				0.530	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	832						10	832	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G	rs200700777	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													|||unknown(NO_COVERAGE)	182	0.0363419	0.0666	0.049	5008	,	,		17867	0.0		0.0447	False		,,,				2504	0.0153					ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)			,	540,3372		144,252,1560					,	0.1	0.1			73	440,7000		88,264,3368	no	intron,intron	PSG7	NM_002783.2,NM_001206650.1	,	232,516,4928	A1A1,A1R,RR		5.914,13.8037,8.6328	,	,		980,10372						5676				female pregnancy	extracellular region		g.chr19:43428981_43428982insG			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43428982_43428982dupG								NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1340	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.406	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		9	107						9	107	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		14	476						14	476	---	---	---	---
PNMAL1	55228	broad.mit.edu	37	19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)aagdel	p.K366del	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1096-1098)del		paraneoplastic Ma antigen family-like 1																																				SO:0001651	inframe_deletion	55228							g.chr19:46973195_46973197delCTT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1096_1098delAAG	19.37:g.46973204_46973206delCTT	ENSP00000318131:p.Lys366del					PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice	p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1401_1403	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	366					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	In_Frame_Del	DEL	ENST00000313683.10	37	c.1096_1098delAAG	CCDS33059.1																																																																																				0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		7	1066						7	1066	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	377						7	377	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		17	526						17	526	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		11	192						11	192	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			14	403						14	403	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	221						7	221	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(685-687)aafs		ADP-ribosylation factor GTPase activating protein 3							126.0	120.0	122.0					22																	43218401		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218401delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.687delA	22.37:g.43218401delT	ENSP00000263245:p.Lys229fs					ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs	p.K229fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			9	906	-			229					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.687delA	CCDS14042.1																																																																																				0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		11	788						11	788	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		9	450						9	450	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153363100	153363102	+	5'UTR	DEL	GCG	GCG	-	rs587783129		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:153363100_153363102delGCG	ENST00000303391.6	-	0	110_112				MECP2_ENST00000453960.2_In_Frame_Del_p.7_8AA>A|MECP2_ENST00000407218.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(19-24)gcg>gc		methyl CpG binding protein 2 (Rett syndrome)			,	87,803		9,38,31,307,151					,	4.0	1.0			5	256,2106		24,107,101,720,559	no	utr-5,coding	MECP2	NM_004992.3,NM_001110792.1	,	33,145,132,1027,710	A1A1,A1R,A1,RR,R		10.8383,9.7753,10.5474	,	,		343,2909				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363100_153363102delGCG	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-140CGC>-	X.37:g.153363109_153363111delGCG						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.AA7del	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	75_77	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.21_23delCGC	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		7	79						7	79	---	---	---	---
